A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005040



Internal ID18747571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131027198..131142955hg38UCSC Ensembl
Innerchr2:131784771..131900528hg19UCSC Ensembl
Innerchr2:131501241..131616998hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38115758
hg19115758
hg18115758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580846
Samples
Known GenesARHGEF4, FAM168B, PLEKHB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005040
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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