A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538440



Internal ID15506972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83248972..83336910hg38UCSC Ensembl
Innerchr5:82544791..82632729hg19UCSC Ensembl
Innerchr5:82580547..82668485hg18UCSC Ensembl
Innerchr5:82580547..82668485hg17UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3887939
hg1987939
hg1887939
hg1787939
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462223
Supporting Variants
SamplesHGDP00583
Known GenesXRCC4
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)nssv538440
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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