A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693028



Internal ID15082994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126512695..126513638hg38UCSC Ensembl
Innerchr12:126997241..126998184hg19UCSC Ensembl
Innerchr12:125563194..125564137hg18UCSC Ensembl
Innerchr12:125522121..125523064hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38944
hg19944
hg18944
hg17944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515762
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693028
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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