A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457221



Internal ID15170600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84869224..84919085hg38UCSC Ensembl
Innerchr15:85412455..85462316hg19UCSC Ensembl
Innerchr15:83213459..83263320hg18UCSC Ensembl
Innerchr15:83213459..83263320hg17UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3849862
hg1949862
hg1849862
hg1749862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv322n27
Supporting Variantsnssv534456
SamplesHGDP00564
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)nsv457221
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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