A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700277



Internal ID15090243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31044717..31084083hg38UCSC Ensembl
Innerchr22:31440703..31480069hg19UCSC Ensembl
Innerchr22:29770703..29810069hg18UCSC Ensembl
Innerchr22:29765257..29804623hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3839367
hg1939367
hg1839367
hg1739367
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524366
Supporting Variants
Samples
Known GenesSMTN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700277
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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