A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583135



Internal ID16023858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130724905..131194388hg38UCSC Ensembl
Innerchr2:131482478..131951961hg19UCSC Ensembl
Innerchr2:131198948..131668431hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38469484
hg19469484
hg18469484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920056
Samples
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, PLEKHB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583135
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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