A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521249



Internal ID15101856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33341257..33344874hg38UCSC Ensembl
Innerchr22:33737243..33740860hg19UCSC Ensembl
Innerchr22:32067243..32070860hg18UCSC Ensembl
Innerchr22:32061797..32065414hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg383618
hg193618
hg183618
hg173618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688341, nssv689361
Samples
Known GenesLARGE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521249
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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