A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538290



Internal ID15156946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17403509..17719728hg38UCSC Ensembl
Innerchr5:17403618..17719837hg19UCSC Ensembl
Innerchr5:17456618..17755558hg18UCSC Ensembl
Innerchr5:17456618..17755558hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38316220
hg19316220
hg18298941
hg17298941
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461989
Supporting Variants
Samples1780862373_A
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)nssv538290
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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