A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538234



Internal ID15507809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:4647914..4661399hg38UCSC Ensembl
Innerchr5:4648027..4661512hg19UCSC Ensembl
Innerchr5:4701027..4714512hg18UCSC Ensembl
Innerchr5:4701027..4714512hg17UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3813486
hg1913486
hg1813486
hg1713486
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461918
Supporting Variants
SamplesHGDP00721
Known Genes
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)nssv538234
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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