A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052962



Internal ID19142181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..20381394hg38UCSC Ensembl
Innerchr15:20262224..20586647hg19UCSC Ensembl
Innerchr15:18522238..18846661hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38324424
hg19324424
hg18324424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2197n100
Supporting Variantsnssv3538353, nssv3538352, nssv3538355, nssv3538354
Samples
Known GenesCHEK2P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052962
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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