A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567243



Internal ID16354652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20189043..20420026hg38UCSC Ensembl
Innerchr15:20394296..20625279hg19UCSC Ensembl
Innerchr15:18654310..18885293hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38230984
hg19230984
hg18230984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4178n54
Supporting Variantsnssv836996
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv567243
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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