A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050119



Internal ID19139338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..20381218hg38UCSC Ensembl
Innerchr15:20262224..20586471hg19UCSC Ensembl
Innerchr15:18522238..18846485hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38324248
hg19324248
hg18324248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2197n100
Supporting Variantsnssv3715850, nssv3538349, nssv3538348, nssv3715849, nssv3538350, nssv3538351
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)nsv1050119
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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