A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872239



Internal ID16166195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44958892..44965985hg38UCSC Ensembl
Innerchr17:43036260..43043353hg19UCSC Ensembl
Innerchr17:40391786..40398879hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387094
hg197094
hg187094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575101
Supporting Variants
Samples
Known GenesC1QL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872239
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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