A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657412



Internal ID15394064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131315514..131330389hg38UCSC Ensembl
Innerchr12:131800059..131814934hg19UCSC Ensembl
Innerchr12:130366012..130380887hg18UCSC Ensembl
Innerchr12:130324939..130339814hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3814876
hg1914876
hg1814876
hg1714876
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517271
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657412
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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