A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051352



Internal ID19140571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..20359322hg38UCSC Ensembl
Innerchr15:20284054..20564575hg19UCSC Ensembl
Innerchr15:18544068..18824589hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38280522
hg19280522
hg18280522
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2198n100
Supporting Variantsnssv3539960, nssv3539961
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)nsv1051352
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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