A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149366



Internal ID15872918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42907778..43019464hg38UCSC Ensembl
Innerchr17:41059795..41171481hg19UCSC Ensembl
Innerchr17:38313321..38425007hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38111687
hg19111687
hg18111687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575052
Supporting Variants
SamplesHGDP00076
Known GenesAARSD1, G6PC, IFI35, PTGES3L, PTGES3L-AARSD1, RPL27, RUNDC1, VAT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149366
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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