A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008419



Internal ID19097637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:8466066..8495086hg38UCSC Ensembl
Innerchr2:8606196..8635216hg19UCSC Ensembl
Innerchr2:8523647..8552667hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3829021
hg1929021
hg1829021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3712n100
Supporting Variantsnssv3576939
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)nsv1008419
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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