A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574232



Internal ID16014955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3254715..3503170hg38UCSC Ensembl
Innerchr17:3158009..3406464hg19UCSC Ensembl
Innerchr17:3104759..3353214hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38248456
hg19248456
hg18248456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv866445
Samples
Known GenesASPA, OR1E1, OR1E2, OR3A1, OR3A2, OR3A3, OR3A4P, SPATA22
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574232
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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