A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534460



Internal ID15157763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85282336..85600273hg38UCSC Ensembl
Innerchr15:85825567..86143504hg19UCSC Ensembl
Innerchr15:83626571..83944508hg18UCSC Ensembl
Innerchr15:83626571..83944508hg17UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38317938
hg19317938
hg18317938
hg17317938
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457226
Supporting Variants
Samples1782681216_A
Known GenesAKAP13
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)nssv534460
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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