A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654961



Internal ID15044927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29685726..29757732hg38UCSC Ensembl
Innerchr22:30081715..30153721hg19UCSC Ensembl
Innerchr22:28411715..28483721hg18UCSC Ensembl
Innerchr22:28406269..28478275hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3872007
hg1972007
hg1872007
hg1772007
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)nssv654961
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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