A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704429



Internal ID15441081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37126230..37200346hg38UCSC Ensembl
Innerchr17:35483151..35557289hg19UCSC Ensembl
Innerchr17:32557264..32631402hg18UCSC Ensembl
Innerchr17:32557264..32631402hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3874117
hg1974139
hg1874139
hg1774139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527922
Supporting Variants
Samples
Known GenesACACA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704429
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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