A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692689



Internal ID15082655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19802785..19812799hg38UCSC Ensembl
Innerchr22:19790308..19800322hg19UCSC Ensembl
Innerchr22:18170308..18180322hg18UCSC Ensembl
Innerchr22:18164862..18174876hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3810015
hg1910015
hg1810015
hg1710015
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517478
Supporting Variants
Samples
Known GenesGNB1L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692689
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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