A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694193



Internal ID15430845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:77774841..77774933hg38UCSC Ensembl
Innerchr12:78168621..78168713hg19UCSC Ensembl
Innerchr12:76692752..76692844hg18UCSC Ensembl
Innerchr12:76671089..76671181hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
hg1793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518042
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694193
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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