A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv515841

Internal ID

15442898

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:40992402..41048432	hg38	UCSC Ensembl
Inner	chr2:41219542..41275572	hg19	UCSC Ensembl
Inner	chr2:41073046..41129076	hg18	UCSC Ensembl
Inner	chr2:41131193..41187223	hg17	UCSC Ensembl

Cytoband

2p22.1

Allele length

Assembly	Allele length
hg38	56031
hg19	56031
hg18	56031
hg17	56031

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv674309, nssv669774, nssv680305, nssv660835, nssv654257, nssv688840, nssv688492, nssv652978, nssv686024, nssv691516, nssv691793, nssv670123, nssv685269, nssv688154, nssv653032, nssv678675, nssv657720, nssv661636, nssv684934, nssv654181, nssv652432, nssv675174, nssv653083, nssv673281, nssv652384, nssv692379, nssv689070, nssv688283, nssv664673, nssv691908, nssv678302, nssv672665, nssv669752, nssv673790, nssv655183, nssv684621, nssv691943, nssv681123, nssv662253, nssv682867, nssv663559, nssv691383, nssv682450, nssv666001, nssv666477, nssv693814, nssv652100, nssv683224, nssv677532, nssv685119, nssv692807, nssv682743, nssv685962, nssv691608, nssv682232, nssv684649, nssv693679, nssv688049, nssv681627, nssv672138, nssv691754, nssv689917, nssv654446, nssv688451, nssv675149, nssv683083, nssv667090, nssv698915, nssv673206, nssv666651, nssv688913, nssv675846, nssv666970, nssv687244, nssv661564, nssv688224, nssv662019, nssv654428, nssv675061, nssv689508, nssv682883, nssv681696, nssv678647, nssv689554, nssv670756, nssv690588, nssv687524, nssv666194, nssv665667, nssv656653, nssv687175, nssv659201, nssv686554, nssv685712, nssv662048, nssv659749, nssv658539, nssv681358, nssv667975, nssv664710, nssv691062, nssv678848, nssv663760, nssv662428, nssv682753, nssv675367, nssv689760, nssv673711, nssv671092, nssv680629, nssv653357, nssv666674, nssv685489, nssv684150, nssv665631, nssv659664, nssv657443, nssv675411, nssv675445, nssv689340, nssv654057, nssv681998, nssv660471, nssv680798, nssv670047, nssv669052, nssv667880, nssv669971, nssv659822, nssv693746, nssv657499, nssv680452, nssv652472, nssv661984, nssv652691, nssv680859, nssv676424, nssv684363, nssv662165, nssv687586, nssv677697, nssv658328, nssv674508, nssv674412, nssv663263, nssv665173, nssv665732, nssv663798, nssv664565, nssv692632, nssv681396, nssv653703, nssv666787, nssv666347, nssv687963, nssv673087, nssv692080, nssv680229, nssv663855, nssv672182, nssv677304, nssv662229, nssv687028, nssv664353, nssv655149, nssv676035, nssv666826, nssv673677, nssv682494, nssv694181, nssv663024, nssv667447, nssv663947, nssv681508, nssv659990, nssv672552, nssv674218, nssv659612, nssv678170, nssv671021, nssv673949, nssv683839, nssv657991, nssv652841, nssv651944, nssv676960, nssv679428, nssv655384, nssv658675, nssv663303, nssv689266, nssv689288, nssv686277, nssv656572, nssv666877, nssv661149, nssv656144, nssv663128, nssv681532, nssv668011, nssv662685, nssv660897, nssv652049, nssv668230, nssv687214, nssv680245, nssv692546, nssv689217, nssv664899, nssv652718, nssv680973, nssv660275, nssv678622, nssv690133, nssv661908, nssv693499, nssv655608, nssv662764, nssv684719, nssv677194, nssv671005, nssv682985, nssv657479, nssv692710, nssv690184, nssv686004, nssv678193, nssv661469, nssv678011, nssv672318, nssv689581, nssv690311, nssv665126, nssv669303, nssv668315, nssv679085, nssv667428, nssv676341, nssv682768, nssv688795, nssv654805, nssv692404, nssv688071, nssv670316, nssv660626, nssv670207, nssv661299, nssv655472, nssv688886, nssv680322, nssv686294, nssv653923, nssv671265, nssv676990, nssv652178, nssv655003, nssv660091, nssv652197, nssv674981, nssv664368, nssv674607, nssv657254, nssv668851, nssv679855, nssv695658, nssv653259, nssv671626, nssv690913, nssv701656, nssv691506, nssv686716, nssv664063, nssv660307, nssv673830, nssv680396, nssv662846, nssv661324, nssv681043, nssv662626, nssv672867, nssv661683, nssv672627, nssv684026, nssv688174, nssv679408, nssv657345, nssv657397, nssv675670, nssv691081, nssv671851, nssv663897, nssv689360, nssv681083, nssv673567, nssv653785, nssv676282, nssv671152, nssv660058, nssv677772, nssv666154, nssv673732, nssv664036, nssv693906, nssv685046, nssv691113, nssv675579, nssv676057, nssv680840, nssv686955, nssv659144, nssv668975, nssv670885, nssv659359, nssv691652, nssv681609, nssv659102, nssv679300, nssv665929, nssv671125, nssv681163, nssv690013, nssv652626, nssv658657, nssv679676, nssv679712, nssv672286, nssv669834, nssv668634, nssv668555, nssv680086, nssv665416, nssv672566, nssv656009, nssv669938, nssv688383, nssv692348, nssv657873, nssv675261, nssv671644, nssv655331, nssv677025, nssv674254, nssv666717, nssv655405, nssv668512, nssv657920, nssv656057, nssv674591, nssv660936, nssv691727

Samples

Known Genes

Method

SNP array

Analysis

Sample-level CNVs

Platform

GPL6434

Comments

Reference

Shaikh_et_al_2009

Pubmed ID

Accession Number(s)

Frequency

Sample Size	2026
Observed Gain	9
Observed Loss	341
Observed Complex	0
Frequency	n/a