A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588253



Internal ID16375662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20299763..20346734hg38UCSC Ensembl
Innerchr22:20287286..20344527hg19UCSC Ensembl
Innerchr22:18667286..18724527hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3846972
hg1957242
hg1857242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951883
Samples
Known GenesDGCR6L, LOC729444
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588253
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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