A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv869519



Internal ID15816789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30056691..30188461hg38UCSC Ensembl
Innerchr17:28383709..28515479hg19UCSC Ensembl
Innerchr17:25407835..25539605hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38131771
hg19131771
hg18131771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574664
Supporting Variants
Samples
Known GenesEFCAB5, MIR3184, MIR423, NSRP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv869519
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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