A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053992



Internal ID19143211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:99042384..99150785hg38UCSC Ensembl
Innerchr10:100802141..100910542hg19UCSC Ensembl
Innerchr10:100792131..100900532hg18UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38108402
hg19108402
hg18108402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3515287
Samples
Known GenesHPSE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053992
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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