A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803648



Internal ID15750918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122841827..122862424hg38UCSC Ensembl
Innerchr12:123326374..123346971hg19UCSC Ensembl
Innerchr12:121892327..121912924hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3820598
hg1920598
hg1820598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560490
Supporting Variants
Samples
Known GenesHIP1R
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803648
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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