A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997947



Internal ID18810797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68738956..68817497hg38UCSC Ensembl
Innerchr2:68966088..69044629hg19UCSC Ensembl
Innerchr2:68819592..68898133hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3878542
hg1978542
hg1878542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577286
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)nsv997947
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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