A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567250



Internal ID16354659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20193760..20420298hg38UCSC Ensembl
Innerchr15:20399013..20625551hg19UCSC Ensembl
Innerchr15:18659027..18885565hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38226539
hg19226539
hg18226539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4178n54
Supporting Variantsnssv837006, nssv837007
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv567250
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer