A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457291



Internal ID15517356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101387672..101591019hg38UCSC Ensembl
Innerchr15:101927877..102131222hg19UCSC Ensembl
Innerchr15:99745400..99948745hg18UCSC Ensembl
Innerchr15:99745400..99948745hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38203348
hg19203346
hg18203346
hg17203346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534516
SamplesHGDP00654
Known GenesPCSK6
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457291
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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