A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612533



Internal ID16399942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:138745461..139538760hg38UCSC Ensembl
Innerchr8:139757704..140551003hg19UCSC Ensembl
Innerchr8:139826886..140620185hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38793300
hg19793300
hg18793300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124229
Samples
Known GenesCOL22A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612533
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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