A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527222



Internal ID15107829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45793244..45810696hg38UCSC Ensembl
Innerchr13:46367379..46384831hg19UCSC Ensembl
Innerchr13:45265380..45282832hg18UCSC Ensembl
Innerchr13:45265380..45282832hg17UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3817453
hg1917453
hg1817453
hg1717453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703622
Samples
Known GenesSIAH3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527222
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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