A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457213



Internal ID15170592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82163886..82280914hg38UCSC Ensembl
Innerchr15:82456227..82573255hg19UCSC Ensembl
Innerchr15:80243282..80360310hg18UCSC Ensembl
Innerchr15:80243282..80360310hg17UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38117029
hg19117029
hg18117029
hg17117029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv321n27
Supporting Variantsnssv534450
SamplesNINDS_115
Known GenesEFTUD1, FAM154B
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)nsv457213
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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