A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683533



Internal ID15420185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65727482..65729298hg38UCSC Ensembl
Innerchr12:66121262..66123078hg19UCSC Ensembl
Innerchr12:64407529..64409345hg18UCSC Ensembl
Innerchr12:64407529..64409345hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg381817
hg191817
hg181817
hg171817
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515887
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683533
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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