A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522394



Internal ID15449687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73881410..73967198hg38UCSC Ensembl
Innerchr12:74275190..74360978hg19UCSC Ensembl
Innerchr12:72561457..72647245hg18UCSC Ensembl
Innerchr12:72561457..72647245hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3885789
hg1985789
hg1885789
hg1785789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695175
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522394
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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