A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588624



Internal ID16376033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23591838..23680120hg38UCSC Ensembl
Innerchr22:23934025..24022307hg19UCSC Ensembl
Innerchr22:22264025..22352307hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3888283
hg1988283
hg1888283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv952685
Samples
Known GenesC22orf43, GUSBP11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588624
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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