A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534457



Internal ID15160150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84872155..84919085hg38UCSC Ensembl
Innerchr15:85415386..85462316hg19UCSC Ensembl
Innerchr15:83216390..83263320hg18UCSC Ensembl
Innerchr15:83216390..83263320hg17UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3846931
hg1946931
hg1846931
hg1746931
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457222
Supporting Variants
SamplesHGDP00562
Known GenesALPK3, SLC28A1
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)nssv534457
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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