A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673023



Internal ID15409675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127770815..127781084hg38UCSC Ensembl
Innerchr12:128255360..128265629hg19UCSC Ensembl
Innerchr12:126821313..126831582hg18UCSC Ensembl
Innerchr12:126780240..126790509hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3810270
hg1910270
hg1810270
hg1710270
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516688
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673023
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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