A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457142



Internal ID15517207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:52749690..52799699hg38UCSC Ensembl
Innerchr15:53041887..53091896hg19UCSC Ensembl
Innerchr15:50829179..50879188hg18UCSC Ensembl
Innerchr15:50829179..50879188hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3850010
hg1950010
hg1850010
hg1750010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534400
SamplesNINDS_54
Known GenesONECUT1
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)nsv457142
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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