A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538311



Internal ID15502879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:25521176..25572192hg38UCSC Ensembl
Innerchr5:25521285..25572301hg19UCSC Ensembl
Innerchr5:25557042..25608058hg18UCSC Ensembl
Innerchr5:25557042..25608058hg17UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3851017
hg1951017
hg1851017
hg1751017
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462015
Supporting Variants
Samples1780854576_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)nssv538311
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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