A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679044



Internal ID15069010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40099341..40107944hg38UCSC Ensembl
Innerchr17:38255594..38264197hg19UCSC Ensembl
Innerchr17:35509120..35517723hg18UCSC Ensembl
Innerchr17:35509120..35517723hg17UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg388604
hg198604
hg188604
hg178604
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520636
Supporting Variants
Samples
Known GenesNR1D1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679044
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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