A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005431



Internal ID18747962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:19974915..20010402hg38UCSC Ensembl
Innerchr2:20174676..20210163hg19UCSC Ensembl
Innerchr2:20038157..20073644hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3835488
hg1935488
hg1835488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3736n100
Supporting Variantsnssv3578985
Samples
Known GenesMATN3, WDR35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005431
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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