A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701819



Internal ID15438471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101847722..101854787hg38UCSC Ensembl
Innerchr12:102241500..102248565hg19UCSC Ensembl
Innerchr12:100765631..100772696hg18UCSC Ensembl
Innerchr12:100743968..100751033hg17UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg387066
hg197066
hg187066
hg177066
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525663
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701819
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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