A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457177



Internal ID15517242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:61950998..62008895hg38UCSC Ensembl
Innerchr15:62243197..62301094hg19UCSC Ensembl
Innerchr15:60030489..60088386hg18UCSC Ensembl
Innerchr15:60030489..60088386hg17UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3857898
hg1957898
hg1857898
hg1757898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534422
SamplesHGDP00798
Known GenesVPS13C
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)nsv457177
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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