A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538603



Internal ID15507653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123778493..123796185hg38UCSC Ensembl
Innerchr5:123114187..123131879hg19UCSC Ensembl
Innerchr5:123142086..123159778hg18UCSC Ensembl
Innerchr5:123142086..123159778hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3817693
hg1917693
hg1817693
hg1717693
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462437
Supporting Variants
SamplesHGDP00691
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)nssv538603
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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