A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699891



Internal ID15089857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42592111..42631818hg38UCSC Ensembl
Innerchr22:42988117..43027824hg19UCSC Ensembl
Innerchr22:41318061..41357768hg18UCSC Ensembl
Innerchr22:41312615..41352322hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3839708
hg1939708
hg1839708
hg1739708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524028
Supporting Variants
Samples
Known GenesCYB5R3, POLDIP3, RNU12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699891
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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