A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012680



Internal ID19101897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13062181..13139820hg38UCSC Ensembl
Innerchr2:13202306..13279945hg19UCSC Ensembl
Innerchr2:13119757..13197396hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3877640
hg1977640
hg1877640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3718n100
Supporting Variantsnssv3726764, nssv3726763, nssv3577005, nssv3726762, nssv3726761
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012680
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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