A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457220



Internal ID15517285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84037445..84164180hg38UCSC Ensembl
Innerchr15:84706197..84832932hg19UCSC Ensembl
Innerchr15:82497201..82623936hg18UCSC Ensembl
Innerchr15:82497201..82623936hg17UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38126736
hg19126736
hg18126736
hg17126736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534455
SamplesHGDP00208
Known GenesADAMTSL3, EFTUD1P1
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)nsv457220
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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