A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052991



Internal ID19142210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20404354hg38UCSC Ensembl
Innerchr15:20440526..20609607hg19UCSC Ensembl
Innerchr15:18700540..18869621hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38169082
hg19169082
hg18169082
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2216n100
Supporting Variantsnssv3539444, nssv3539445, nssv3713567, nssv3716548
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)nsv1052991
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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