A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv516262

Internal ID

15096869

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:11305872..11422636	hg38	UCSC Ensembl
Inner	chr12:11458806..11575570	hg19	UCSC Ensembl
Inner	chr12:11350073..11466837	hg18	UCSC Ensembl
Inner	chr12:11350073..11466837	hg17	UCSC Ensembl

Cytoband

12p13.2

Allele length

Assembly	Allele length
hg38	116765
hg19	116765
hg18	116765
hg17	116765

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv693093, nssv692931, nssv664277, nssv683942, nssv677638, nssv653659, nssv663775, nssv692624, nssv656539, nssv664726, nssv689392, nssv676925, nssv680337, nssv692530, nssv680876, nssv677809, nssv685238, nssv658993, nssv684903, nssv682942, nssv676001, nssv669792, nssv692577, nssv683317, nssv654493, nssv680908, nssv674900, nssv659657, nssv675498, nssv670341, nssv683557, nssv674360, nssv693007, nssv684966, nssv673961, nssv673047, nssv668581, nssv671222, nssv661363, nssv657577, nssv663393, nssv689257, nssv676772, nssv667393, nssv677467, nssv659977, nssv656390, nssv656087, nssv692025, nssv683583, nssv680696, nssv691364, nssv667081, nssv685034, nssv693543, nssv680465, nssv657068, nssv685755, nssv670604, nssv674771, nssv669188, nssv675722, nssv669335, nssv663665, nssv693758, nssv676253, nssv661292, nssv696568, nssv654564, nssv689034, nssv682978, nssv674655, nssv680625, nssv686526, nssv677230, nssv669722, nssv661872, nssv676605, nssv658246, nssv689393, nssv653092, nssv668876, nssv670305, nssv689952, nssv691365, nssv682342, nssv675828, nssv664470, nssv652441, nssv690597, nssv662979, nssv657411, nssv662527, nssv682415, nssv671487, nssv686484, nssv655708, nssv683014, nssv682977, nssv665431, nssv667517, nssv691012, nssv677390, nssv665988, nssv686672, nssv682956, nssv689063, nssv683334, nssv652577, nssv678785, nssv651770, nssv669496, nssv675345, nssv665218, nssv692644, nssv652973, nssv667244, nssv666778, nssv667139, nssv664137, nssv669640, nssv656668, nssv689329, nssv664250, nssv672699, nssv654587, nssv675628, nssv682167, nssv688990, nssv679270, nssv679123, nssv653018, nssv665091, nssv685576, nssv690439, nssv684590, nssv676411, nssv651669, nssv689795, nssv674331, nssv658090, nssv670551, nssv693255, nssv674271, nssv678748, nssv671699, nssv669297, nssv659770, nssv686702, nssv655786, nssv653994, nssv693056, nssv668895, nssv652425, nssv656323, nssv681249, nssv659936, nssv693775, nssv667790, nssv666072, nssv657932, nssv656915, nssv676572, nssv680208, nssv676957, nssv693489, nssv670852, nssv689745, nssv668005, nssv703074, nssv676045, nssv663066, nssv679073, nssv681683, nssv662639, nssv683801, nssv669705, nssv664061, nssv669470, nssv654620, nssv686759, nssv659188, nssv668346, nssv683705, nssv658469

Samples

Known Genes

PRB1, PRB2, PRB4

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	36
Observed Loss	149
Observed Complex	0
Frequency	n/a