A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589069



Internal ID16376478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42397867..42488991hg38UCSC Ensembl
Innerchr22:42793873..42884997hg19UCSC Ensembl
Innerchr22:41123817..41214941hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3891125
hg1991125
hg1891125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8116n54
Supporting Variantsnssv957152
Samples
Known GenesNFAM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589069
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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