A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703508



Internal ID15093474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:9768841..9772817hg38UCSC Ensembl
Innerchr17:9672158..9676134hg19UCSC Ensembl
Innerchr17:9612883..9616859hg18UCSC Ensembl
Innerchr17:9612883..9616859hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383977
hg193977
hg183977
hg173977
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527124
Supporting Variants
Samples
Known GenesDHRS7C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703508
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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