A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv869518



Internal ID15816788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30056691..30181380hg38UCSC Ensembl
Innerchr17:28383709..28508398hg19UCSC Ensembl
Innerchr17:25407835..25532524hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38124690
hg19124690
hg18124690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574663
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)nssv869518
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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