A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700359



Internal ID15090325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33723880..33750381hg38UCSC Ensembl
Innerchr22:34119866..34146368hg19UCSC Ensembl
Innerchr22:32449866..32476368hg18UCSC Ensembl
Innerchr22:32444420..32470922hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3826502
hg1926503
hg1826503
hg1726503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524432
Supporting Variants
Samples
Known GenesLARGE, LARGE-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700359
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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