A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567248



Internal ID16354657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20193499..20420780hg38UCSC Ensembl
Innerchr15:20398752..20626033hg19UCSC Ensembl
Innerchr15:18658766..18886047hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38227282
hg19227282
hg18227282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4178n54
Supporting Variantsnssv837003
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv567248
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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