A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462029



Internal ID15522094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28763545..28870396hg38UCSC Ensembl
Innerchr5:28763652..28870503hg19UCSC Ensembl
Innerchr5:28799409..28906260hg18UCSC Ensembl
Innerchr5:28799409..28906260hg17UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg38106852
hg19106852
hg18106852
hg17106852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv694n27
Supporting Variantsnssv538319
SamplesNINDS_222
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)nsv462029
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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