A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005069



Internal ID19094286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12020897..12102608hg38UCSC Ensembl
Innerchr2:12161023..12242734hg19UCSC Ensembl
Innerchr2:12078474..12160185hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3881712
hg1981712
hg1881712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3716n100
Supporting Variantsnssv3576965
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)nsv1005069
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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