A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462481



Internal ID15522546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:148750575..148793126hg38UCSC Ensembl
Innerchr5:148130138..148172689hg19UCSC Ensembl
Innerchr5:148110331..148152882hg18UCSC Ensembl
Innerchr5:148110331..148152882hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3842552
hg1942552
hg1842552
hg1742552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538635
SamplesNINDS_196
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)nsv462481
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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