A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589136



Internal ID16029859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46251091..46313984hg38UCSC Ensembl
Innerchr22:46646988..46709881hg19UCSC Ensembl
Innerchr22:45025652..45088545hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3862894
hg1962894
hg1862894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957221
Samples
Known GenesGTSE1, GTSE1-AS1, PKDREJ, TTC38
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589136
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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