A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv517164

Internal ID

15097771

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:54030387..54044202	hg38	UCSC Ensembl
Inner	chr20:52646926..52660741	hg19	UCSC Ensembl
Inner	chr20:52080333..52094148	hg18	UCSC Ensembl
Inner	chr20:52080333..52094148	hg17	UCSC Ensembl

Cytoband

20q13.2

Allele length

Assembly	Allele length
hg38	13816
hg19	13816
hg18	13816
hg17	13816

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv688841, nssv671323, nssv692611, nssv677406, nssv686224, nssv689810, nssv658559, nssv664901, nssv680191, nssv684735, nssv654405, nssv660753, nssv671417, nssv681719, nssv683541, nssv664355, nssv682201, nssv663322, nssv678223, nssv678867, nssv653284, nssv666322, nssv693515, nssv658800, nssv689146, nssv655427, nssv660411, nssv691655, nssv673654, nssv687775, nssv657112, nssv678029, nssv684887, nssv671610, nssv662381, nssv657188, nssv670887, nssv675833, nssv688243, nssv657559, nssv665709, nssv670318, nssv683470, nssv667858, nssv688425, nssv658740, nssv659595, nssv680453, nssv655653, nssv686451, nssv663603, nssv654672, nssv689733, nssv683674, nssv676590, nssv681896, nssv692152, nssv693748, nssv662734, nssv680821, nssv688789, nssv691540, nssv688298, nssv686399, nssv690818, nssv660613, nssv667052, nssv689896, nssv669478, nssv653903, nssv683322, nssv655474, nssv663967, nssv685143, nssv655885, nssv654183, nssv674952, nssv676661, nssv687006, nssv654243, nssv651969, nssv667503, nssv691355, nssv684132, nssv664656, nssv673511, nssv675847, nssv670365, nssv676611, nssv658286, nssv691228, nssv666019, nssv687697, nssv654378, nssv681044, nssv662230, nssv689800, nssv669015, nssv662512, nssv679523, nssv681485, nssv689243, nssv683107, nssv652401, nssv687380, nssv693468, nssv690681, nssv675312, nssv664632, nssv671549, nssv673620, nssv664528, nssv666299, nssv682038, nssv684335, nssv670393, nssv654541, nssv681803, nssv685517, nssv663288, nssv679361, nssv690645, nssv662254, nssv654730, nssv680556, nssv678324, nssv663624, nssv661173, nssv665016, nssv669096, nssv660961, nssv688971, nssv676910, nssv652692, nssv667624, nssv698904, nssv674660, nssv657846, nssv705704

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	4
Observed Loss	135
Observed Complex	0
Frequency	n/a