A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148323



Internal ID16001509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136386314..136474501hg38UCSC Ensembl
Innerchr9:139280766..139368953hg19UCSC Ensembl
Innerchr9:138400587..138488774hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3888188
hg1988188
hg1888188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv615963
Supporting Variants
Samples
Known GenesINPP5E, PMPCA, SDCCAG3, SEC16A, SNAPC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148323
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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