A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048223



Internal ID19137442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101485777..101615479hg38UCSC Ensembl
Innerchr15:102025982..102155682hg19UCSC Ensembl
Innerchr15:99843505..99973205hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38129703
hg19129701
hg18129701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2678n100
Supporting Variantsnssv3555351
Samples
Known GenesPCSK6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048223
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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