A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701614



Internal ID15438266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23107768..23112535hg38UCSC Ensembl
Innerchr22:23449955..23454722hg19UCSC Ensembl
Innerchr22:21779955..21784722hg18UCSC Ensembl
Innerchr22:21774509..21779276hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg384768
hg194768
hg184768
hg174768
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525485
Supporting Variants
Samples
Known GenesGNAZ, RTDR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701614
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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