A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567294



Internal ID16354703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20220816..20424722hg38UCSC Ensembl
Innerchr15:20426069..20629975hg19UCSC Ensembl
Innerchr15:18686083..18889989hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38203907
hg19203907
hg18203907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4178n54
Supporting Variantsnssv837079, nssv837077, nssv837078
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv567294
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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