A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518877



Internal ID15446170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100815535..100817988hg38UCSC Ensembl
Innerchr12:101209313..101211766hg19UCSC Ensembl
Innerchr12:99733444..99735897hg18UCSC Ensembl
Innerchr12:99711781..99714234hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382454
hg192454
hg182454
hg172454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694283
Samples
Known GenesANO4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518877
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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