A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522482



Internal ID15449775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12593651..12600744hg38UCSC Ensembl
Innerchr12:12746585..12753678hg19UCSC Ensembl
Innerchr12:12637852..12644945hg18UCSC Ensembl
Innerchr12:12637852..12644945hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg387094
hg197094
hg187094
hg177094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705849
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522482
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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