A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699709



Internal ID15089675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53055537..53059649hg38UCSC Ensembl
Innerchr12:53449321..53453433hg19UCSC Ensembl
Innerchr12:51735588..51739700hg18UCSC Ensembl
Innerchr12:51735588..51739700hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384113
hg194113
hg184113
hg174113
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517066
Supporting Variants
Samples
Known GenesMIR6757, TENC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699709
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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