A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702557



Internal ID15439209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23637155..23653026hg38UCSC Ensembl
Innerchr22:23979342..23995213hg19UCSC Ensembl
Innerchr22:22309342..22325213hg18UCSC Ensembl
Innerchr22:22303896..22319767hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3815872
hg1915872
hg1815872
hg1715872
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526278
Supporting Variants
Samples
Known GenesGUSBP11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702557
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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