A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000696



Internal ID19089913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12022717..12100896hg38UCSC Ensembl
Innerchr2:12162843..12241022hg19UCSC Ensembl
Innerchr2:12080294..12158473hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3878180
hg1978180
hg1878180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3716n100
Supporting Variantsnssv3576966
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)nsv1000696
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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