A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1011925

Internal ID

18754461

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:12269..66815	hg38	UCSC Ensembl
Inner	chr4:12269..66707	hg19	UCSC Ensembl
Inner	chr4:2269..56707	hg18	UCSC Ensembl

Cytoband

4p16.3

Allele length

Assembly	Allele length
hg38	54547
hg19	54439
hg18	54439

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3615067, nssv3621175, nssv3615093, nssv3615107, nssv3737980, nssv3615056, nssv3621153, nssv3619541, nssv3738008, nssv3615089, nssv3621190, nssv3621186, nssv3621192, nssv3621106, nssv3619536, nssv3615130, nssv3621091, nssv3615103, nssv3615054, nssv3621144, nssv3615085, nssv3621207, nssv3621208, nssv3621104, nssv3615078, nssv3738025, nssv3619558, nssv3619542, nssv3621146, nssv3621128, nssv3621113, nssv3738012, nssv3737984, nssv3621196, nssv3615137, nssv3621201, nssv3619557, nssv3619562, nssv3615087, nssv3621137, nssv3621202, nssv3615110, nssv3615055, nssv3737994, nssv3621193, nssv3621184, nssv3615100, nssv3615127, nssv3738000, nssv3615071, nssv3621174, nssv3615134, nssv3615047, nssv3738020, nssv3738023, nssv3619539, nssv3621103, nssv3621171, nssv3621094, nssv3619543, nssv3621148, nssv3738009, nssv3737977, nssv3738038, nssv3619555, nssv3621122, nssv3621205, nssv3621167, nssv3738032, nssv3621120, nssv3615074, nssv3621200, nssv3615131, nssv3621161, nssv3621164, nssv3615048, nssv3615060, nssv3621114, nssv3615096, nssv3621204, nssv3615102, nssv3615092, nssv3615140, nssv3615083, nssv3619561, nssv3615051, nssv3738018, nssv3737993, nssv3738016, nssv3737986, nssv3738024, nssv3619546, nssv3738031, nssv3621155, nssv3615118, nssv3615082, nssv3621182, nssv3737992, nssv3615052, nssv3621179, nssv3619556, nssv3621135, nssv3738006, nssv3621194, nssv3615058, nssv3621203, nssv3621090, nssv3621139, nssv3615133, nssv3615101, nssv3615098, nssv3615115, nssv3615062, nssv3737982, nssv3615120, nssv3615080, nssv3619551, nssv3619559, nssv3615128, nssv3738037, nssv3738028, nssv3621119, nssv3738004, nssv3738026, nssv3621154, nssv3738002, nssv3738015, nssv3621100, nssv3738035, nssv3621096, nssv3615124, nssv3621115, nssv3615126, nssv3615059, nssv3621158, nssv3615117, nssv3615099, nssv3621181, nssv3621177, nssv3621187, nssv3615143, nssv3621188, nssv3615043, nssv3738003, nssv3619552, nssv3615086, nssv3621131, nssv3738022, nssv3615125, nssv3737999, nssv3619549, nssv3621195, nssv3621105, nssv3621143, nssv3621140, nssv3615088, nssv3621159, nssv3737987, nssv3737983, nssv3615108, nssv3615046, nssv3619550, nssv3615061, nssv3738030, nssv3615076, nssv3621134, nssv3615132, nssv3615081, nssv3615049, nssv3621117, nssv3619553, nssv3615070, nssv3737969, nssv3621124, nssv3615084, nssv3615050, nssv3621209, nssv3621108, nssv3737988, nssv3621099, nssv3619548, nssv3615045, nssv3621178, nssv3615090, nssv3738033, nssv3737989, nssv3621101, nssv3621133, nssv3615119, nssv3615079, nssv3621098, nssv3738034, nssv3621110, nssv3615139, nssv3621189, nssv3621165, nssv3621123, nssv3615072, nssv3621102, nssv3615136, nssv3738027, nssv3619554, nssv3615064, nssv3615106, nssv3621162, nssv3621147, nssv3615138, nssv3615063, nssv3738021, nssv3621163, nssv3738029, nssv3621109, nssv3621095, nssv3737978, nssv3737985, nssv3621169, nssv3615105, nssv3621183, nssv3621151, nssv3737970, nssv3615116, nssv3621145, nssv3621112, nssv3621111, nssv3615123, nssv3737998, nssv3621150, nssv3615111, nssv3737990, nssv3621121, nssv3619537, nssv3621092, nssv3615129, nssv3615109, nssv3621130, nssv3615141, nssv3619560, nssv3619540, nssv3619538, nssv3738036, nssv3621160, nssv3621118, nssv3615121, nssv3615091, nssv3615077, nssv3621125, nssv3615065, nssv3621132, nssv3621127, nssv3621185, nssv3621176, nssv3738007, nssv3621116, nssv3621166, nssv3738013, nssv3738017, nssv3737996, nssv3621142, nssv3621093, nssv3621157, nssv3738014, nssv3621191, nssv3621172, nssv3615104, nssv3621136, nssv3738005, nssv3737974, nssv3621173, nssv3619547, nssv3619545, nssv3621170, nssv3738001, nssv3737971, nssv3737981, nssv3621126, nssv3737979, nssv3615057, nssv3621156, nssv3615122, nssv3615073, nssv3738010, nssv3737975, nssv3621168, nssv3615097, nssv3737995, nssv3738011, nssv3615068, nssv3738019, nssv3621107, nssv3621206, nssv3621197, nssv3615142, nssv3621138, nssv3621180, nssv3615069, nssv3619544, nssv3615094, nssv3621149, nssv3615066, nssv3737976, nssv3737997, nssv3615053, nssv3621152, nssv3737972, nssv3621198, nssv3615044, nssv3621199, nssv3615135, nssv3621097, nssv3615112, nssv3615095, nssv3615075, nssv3615114, nssv3615113, nssv3621129, nssv3737973, nssv3621141, nssv3737991

Samples

Known Genes

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	29084
Observed Gain	260
Observed Loss	58
Observed Complex	0
Frequency	n/a