A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567249



Internal ID16354658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20193760..20418387hg38UCSC Ensembl
Innerchr15:20399013..20623640hg19UCSC Ensembl
Innerchr15:18659027..18883654hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38224628
hg19224628
hg18224628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4178n54
Supporting Variantsnssv837005, nssv837004
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv567249
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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