A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703913



Internal ID15093879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47726172..47796383hg38UCSC Ensembl
Innerchr12:48119955..48190166hg19UCSC Ensembl
Innerchr12:46406222..46476433hg18UCSC Ensembl
Innerchr12:46406222..46476433hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3870212
hg1970212
hg1870212
hg1770212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527470
Supporting Variants
Samples
Known GenesHDAC7, RAPGEF3, SLC48A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703913
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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