A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697317



Internal ID15433969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98310417..98322603hg38UCSC Ensembl
Innerchr12:98704195..98716381hg19UCSC Ensembl
Innerchr12:97228326..97240512hg18UCSC Ensembl
Innerchr12:97206663..97218849hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3812187
hg1912187
hg1812187
hg1712187
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520270
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697317
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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