A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462370



Internal ID15522435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106022528..106070173hg38UCSC Ensembl
Innerchr5:105358229..105405874hg19UCSC Ensembl
Innerchr5:105386128..105433773hg18UCSC Ensembl
Innerchr5:105386128..105433773hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3847646
hg1947646
hg1847646
hg1747646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv719n27
Supporting Variantsnssv538549
SamplesHGDP01345
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)nsv462370
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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