A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698312



Internal ID15434964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97645085..97666418hg38UCSC Ensembl
Innerchr12:98038863..98060196hg19UCSC Ensembl
Innerchr12:96562994..96584327hg18UCSC Ensembl
Innerchr12:96541331..96562664hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3821334
hg1921334
hg1821334
hg1721334
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521692
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698312
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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