A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004947



Internal ID19094164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20142503..20188377hg38UCSC Ensembl
Innerchr2:20342264..20388138hg19UCSC Ensembl
Innerchr2:20205745..20251619hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3845875
hg1945875
hg1845875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3738n100
Supporting Variantsnssv3578992
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)nsv1004947
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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