A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589065



Internal ID16029788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42360491..42536311hg38UCSC Ensembl
Innerchr22:42756497..42932317hg19UCSC Ensembl
Innerchr22:41086441..41262261hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38175821
hg19175821
hg18175821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957148
Samples
Known GenesNFAM1, RRP7A, SERHL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589065
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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