A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv656996



Internal ID15046962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:89180930..89215450hg38UCSC Ensembl
Innerchr10:90940687..90975207hg19UCSC Ensembl
Innerchr10:90930667..90965187hg18UCSC Ensembl
Innerchr10:90930667..90965187hg17UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3834521
hg1934521
hg1834521
hg1734521
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517170
Supporting Variants
Samples
Known GenesCH25H, LIPA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv656996
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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