A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004083



Internal ID19093300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20136476..20188377hg38UCSC Ensembl
Innerchr2:20336237..20388138hg19UCSC Ensembl
Innerchr2:20199718..20251619hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3851902
hg1951902
hg1851902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3738n100
Supporting Variantsnssv3578990
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)nsv1004083
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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