A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698733



Internal ID15088699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9879281..9971774hg38UCSC Ensembl
Innerchr12:10031880..10124373hg19UCSC Ensembl
Innerchr12:9923147..10015640hg18UCSC Ensembl
Innerchr12:9923147..10015640hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3892494
hg1992494
hg1892494
hg1792494
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523050
Supporting Variants
Samples
Known GenesCLEC12A, CLEC2A, KLRF2, LOC102467076
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698733
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer