A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462382



Internal ID15522447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:109963445..110084017hg38UCSC Ensembl
Innerchr5:109299146..109419718hg19UCSC Ensembl
Innerchr5:109327045..109447617hg18UCSC Ensembl
Innerchr5:109327045..109447617hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38120573
hg19120573
hg18120573
hg17120573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538557
SamplesHGDP00100
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)nsv462382
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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