A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534423



Internal ID15162576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:62047927..62102125hg38UCSC Ensembl
Innerchr15:62340126..62394324hg19UCSC Ensembl
Innerchr15:60127418..60181616hg18UCSC Ensembl
Innerchr15:60127418..60181616hg17UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3854199
hg1954199
hg1854199
hg1754199
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457178
Supporting Variants
SamplesHGDP00966
Known GenesC2CD4A, VPS13C
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)nssv534423
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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