A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517534



Internal ID15098141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31581608..31628994hg38UCSC Ensembl
Innerchr22:31977594..32024980hg19UCSC Ensembl
Innerchr22:30307594..30354980hg18UCSC Ensembl
Innerchr22:30302148..30349534hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3847387
hg1947387
hg1847387
hg1747387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652289, nssv661911, nssv674567, nssv691875, nssv687411, nssv685538, nssv671400, nssv655941, nssv658385
Samples
Known GenesMIR7109, PISD, SFI1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517534
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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