A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695453



Internal ID15432105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49224260..49251457hg38UCSC Ensembl
Innerchr12:49618043..49645240hg19UCSC Ensembl
Innerchr12:47904310..47931507hg18UCSC Ensembl
Innerchr12:47904310..47931507hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3827198
hg1927198
hg1827198
hg1727198
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518041
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695453
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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