A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686637



Internal ID15423289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39908797..39918694hg38UCSC Ensembl
Innerchr12:40302599..40312496hg19UCSC Ensembl
Innerchr12:38588866..38598763hg18UCSC Ensembl
Innerchr12:38588866..38598763hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389898
hg199898
hg189898
hg179898
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515811
Supporting Variants
Samples
Known GenesSLC2A13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686637
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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