A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462124



Internal ID15522189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:41584977..41596167hg38UCSC Ensembl
Innerchr5:41585079..41596269hg19UCSC Ensembl
Innerchr5:41620836..41632026hg18UCSC Ensembl
Innerchr5:41620836..41632026hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3811191
hg1911191
hg1811191
hg1711191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538371
SamplesHGDP00664
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)nsv462124
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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