A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701308



Internal ID15091274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29692453..29737590hg38UCSC Ensembl
Innerchr22:30088442..30133579hg19UCSC Ensembl
Innerchr22:28418442..28463579hg18UCSC Ensembl
Innerchr22:28412996..28458133hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3845138
hg1945138
hg1845138
hg1745138
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515720
Supporting Variants
Samples
Known GenesCABP7, NF2, ZMAT5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701308
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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