A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv593325

Internal ID

16380734

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:1601262..1601958	hg38	UCSC Ensembl
Inner	chr4:1602989..1603685	hg19	UCSC Ensembl
Inner	chr4:1572949..1573645	hg18	UCSC Ensembl

Cytoband

4p16.3

Allele length

Assembly	Allele length
hg38	697
hg19	697
hg18	697

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv987933, nssv988209, nssv988041, nssv987945, nssv988028, nssv987982, nssv988359, nssv988311, nssv988280, nssv988145, nssv988074, nssv988011, nssv987916, nssv988207, nssv988166, nssv988001, nssv988146, nssv988075, nssv988048, nssv988053, nssv987897, nssv988010, nssv988199, nssv988268, nssv988109, nssv987907, nssv988103, nssv988004, nssv987929, nssv988227, nssv987956, nssv988242, nssv988321, nssv988234, nssv988225, nssv988214, nssv987951, nssv988274, nssv988217, nssv988070, nssv987919, nssv988262, nssv988078, nssv988097, nssv987937, nssv988150, nssv988350, nssv988251, nssv988301, nssv987999, nssv987948, nssv987914, nssv988173, nssv987967, nssv988182, nssv988046, nssv988293, nssv988100, nssv988067, nssv988128, nssv988201, nssv988313, nssv988200, nssv988193, nssv988179, nssv988157, nssv988151, nssv988052, nssv988002, nssv988309, nssv988194, nssv988020, nssv987943, nssv988264, nssv987952, nssv988271, nssv988289, nssv988124, nssv988013, nssv988305, nssv988184, nssv987887, nssv988090, nssv988162, nssv988093, nssv988272, nssv987912, nssv988168, nssv988275, nssv988161, nssv988060, nssv987915, nssv988030, nssv988156, nssv987918, nssv988320, nssv987903, nssv988347, nssv988281, nssv988338, nssv988244, nssv987938, nssv988144, nssv988284, nssv988323, nssv988154, nssv988185, nssv988007, nssv988066, nssv988270, nssv987947, nssv988122, nssv988057, nssv988034, nssv987926, nssv988236, nssv987923, nssv988247, nssv988022, nssv988300, nssv987978, nssv987941, nssv987928, nssv987898, nssv988343, nssv988253, nssv987939, nssv988132, nssv988039, nssv988353, nssv988265, nssv988147, nssv987934, nssv988263, nssv987998, nssv988167, nssv988129, nssv988231, nssv987924, nssv987930, nssv988229, nssv987964, nssv988304, nssv988138, nssv988091, nssv988016, nssv987950, nssv988183, nssv988068, nssv987906, nssv988230, nssv988071, nssv988232, nssv988131, nssv987997, nssv988130, nssv988076, nssv988197, nssv988195, nssv988257, nssv988224, nssv988092, nssv988283, nssv988031, nssv988278, nssv988095, nssv987910, nssv988142, nssv987959, nssv988249, nssv988339, nssv987970, nssv988080, nssv988186, nssv988316, nssv988149, nssv988047, nssv988096, nssv988064, nssv988266, nssv988222, nssv988119, nssv988212, nssv988023, nssv988008, nssv988180, nssv988044, nssv988153, nssv988191, nssv988155, nssv987979, nssv988324, nssv988036, nssv988255, nssv987913, nssv988005, nssv988237, nssv988094, nssv987931, nssv988126, nssv988123, nssv988107, nssv988308, nssv987974, nssv988344, nssv988326, nssv988058, nssv987949, nssv987954, nssv987899, nssv988261, nssv988250, nssv987990, nssv988288, nssv988012, nssv988135, nssv988319, nssv988317, nssv987904, nssv988312, nssv988029, nssv988291, nssv988318, nssv988084, nssv988152, nssv988204, nssv988273, nssv988164, nssv988043, nssv988177, nssv988297, nssv988198, nssv988026, nssv988033, nssv988349, nssv988342, nssv988245, nssv988063, nssv987894, nssv988125, nssv987911, nssv988357, nssv987902, nssv988027, nssv988140, nssv988213, nssv988181, nssv988050, nssv988307, nssv988127, nssv988062, nssv988073, nssv988115, nssv988310, nssv988087, nssv988215, nssv987905, nssv988032, nssv987977, nssv988024, nssv987886, nssv988352, nssv988362, nssv988113, nssv987975, nssv988252, nssv988081, nssv987994, nssv988206, nssv987987, nssv988117, nssv987983, nssv988302, nssv988148, nssv988088, nssv987965, nssv988290, nssv988037, nssv988160, nssv988101, nssv987891, nssv988277, nssv988340, nssv987992, nssv988330, nssv987893, nssv988346, nssv988187, nssv988077, nssv987995, nssv988134, nssv988025, nssv988089, nssv988086, nssv988190, nssv988238, nssv988035, nssv988098, nssv988006, nssv987991, nssv987973, nssv988322, nssv988017, nssv988015, nssv988254, nssv988243, nssv988333, nssv987955, nssv988136, nssv988211, nssv988296, nssv988269, nssv988287, nssv988303, nssv988295, nssv988226, nssv988205, nssv988306, nssv987962, nssv988208, nssv988220, nssv988051, nssv988355, nssv987960, nssv987932, nssv988219, nssv987901, nssv987892, nssv987920, nssv988104, nssv987946, nssv987988, nssv988298, nssv988049, nssv988159, nssv988260, nssv987885, nssv987890, nssv988354, nssv988292, nssv987921, nssv987917, nssv988286, nssv988279, nssv988176, nssv988169, nssv988102, nssv988328, nssv988233, nssv988239, nssv988192, nssv988054, nssv988361, nssv987900, nssv988221, nssv988202, nssv987966, nssv988038, nssv988258, nssv988331, nssv988040, nssv988009, nssv987957, nssv988294, nssv988082, nssv987971, nssv987961, nssv988133, nssv987972, nssv987944, nssv988337, nssv988178, nssv988163, nssv987940, nssv987996, nssv987935, nssv988335, nssv988259, nssv988228, nssv988141, nssv987942, nssv987927, nssv987968, nssv987909, nssv988276, nssv988174, nssv988116, nssv988083, nssv988216, nssv988065, nssv987888, nssv988108, nssv988055, nssv987989, nssv987981, nssv987895, nssv988171, nssv988327, nssv988210, nssv988143, nssv988085, nssv988105, nssv987889, nssv988172, nssv987936, nssv988299, nssv988069, nssv988000, nssv988356, nssv988114, nssv988329, nssv988158, nssv988072, nssv988203, nssv988189, nssv988336, nssv988246, nssv987980, nssv987984, nssv988223, nssv988332, nssv988170, nssv988196, nssv987969, nssv988061, nssv988120, nssv988188, nssv988003, nssv988018, nssv988360, nssv988282, nssv988111, nssv988045, nssv987986, nssv988315, nssv988042, nssv987896, nssv988267, nssv988334, nssv988139, nssv988021, nssv988137, nssv987958, nssv988112, nssv988059, nssv988218, nssv987976, nssv987908, nssv988079, nssv988165, nssv987993, nssv988358, nssv988235, nssv988314, nssv987925, nssv988351, nssv988019, nssv988341, nssv988241, nssv987963, nssv988248, nssv988285, nssv988256, nssv988106, nssv988121, nssv988056, nssv987985, nssv988118, nssv988099, nssv987953, nssv988240, nssv988110, nssv987922, nssv988014, nssv988348, nssv988325, nssv988345, nssv988175

Samples

Known Genes

Method

SNP array

Analysis

Illumina SNP array copy number analysis

Platform

Not reported

Comments

Reference

Cooper_et_al_2011

Pubmed ID

Accession Number(s)

Frequency

Sample Size	17421
Observed Gain	4
Observed Loss	474
Observed Complex	0
Frequency	n/a