A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538427



Internal ID15505127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:67825373..67889394hg38UCSC Ensembl
Innerchr5:67121201..67185222hg19UCSC Ensembl
Innerchr5:67156957..67220978hg18UCSC Ensembl
Innerchr5:67156957..67220978hg17UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3864022
hg1964022
hg1864022
hg1764022
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462207
Supporting Variants
SamplesHGDP00054
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)nssv538427
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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