A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462171



Internal ID15522236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52037296..52121508hg38UCSC Ensembl
Innerchr5:51333130..51417342hg19UCSC Ensembl
Innerchr5:51368887..51453099hg18UCSC Ensembl
Innerchr5:51368887..51453099hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3884213
hg1984213
hg1884213
hg1784213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538404
SamplesHGDP00925
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)nsv462171
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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