A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951674



Internal ID15898944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18903102..19029150hg38UCSC Ensembl
Innerchr22:18890615..19016663hg19UCSC Ensembl
Innerchr22:17270615..17396663hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38126049
hg19126049
hg18126049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588194
Supporting Variants
Samples
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951674
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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