A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006929



Internal ID18749460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68738956..68771874hg38UCSC Ensembl
Innerchr2:68966088..68999006hg19UCSC Ensembl
Innerchr2:68819592..68852510hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3832919
hg1932919
hg1832919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3862n100
Supporting Variantsnssv3577285
Samples
Known GenesARHGAP25
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006929
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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