A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519543



Internal ID15446836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86913552..87134243hg38UCSC Ensembl
Innerchr12:87307329..87528020hg19UCSC Ensembl
Innerchr12:85831460..86052151hg18UCSC Ensembl
Innerchr12:85809797..86030488hg17UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38220692
hg19220692
hg18220692
hg17220692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696912
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519543
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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