A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462371



Internal ID15522436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106028662..106069466hg38UCSC Ensembl
Innerchr5:105364363..105405167hg19UCSC Ensembl
Innerchr5:105392262..105433066hg18UCSC Ensembl
Innerchr5:105392262..105433066hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3840805
hg1940805
hg1840805
hg1740805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv719n27
Supporting Variantsnssv538550
SamplesHGDP00738
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)nsv462371
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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