A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv972962



Internal ID16266918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128403977..128469086hg38UCSC Ensembl
Innerchr3:128122820..128187929hg19UCSC Ensembl
Innerchr3:129605510..129670619hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3865110
hg1965110
hg1865110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591598
Supporting Variants
Samples
Known GenesDNAJB8, DNAJB8-AS1, EEFSEC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv972962
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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