A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000385



Internal ID19089602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:34437899..34511978hg38UCSC Ensembl
Innerchr2:34662966..34737045hg19UCSC Ensembl
Innerchr2:34516470..34590549hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3874080
hg1974080
hg1874080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3758n100
Supporting Variantsnssv3580995
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)nsv1000385
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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