A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521271



Internal ID15101878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50153021..50249888hg38UCSC Ensembl
Innerchr10:51912781..52009648hg19UCSC Ensembl
Innerchr10:51582787..51679654hg18UCSC Ensembl
Innerchr10:51582787..51679654hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3896868
hg1996868
hg1896868
hg1796868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697879
Samples
Known GenesASAH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521271
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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