A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462562



Internal ID15175941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176836148..176883197hg38UCSC Ensembl
Innerchr5:176263149..176310198hg19UCSC Ensembl
Innerchr5:176195755..176242804hg18UCSC Ensembl
Innerchr5:176195755..176242804hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3847050
hg1947050
hg1847050
hg1747050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538696
SamplesHGDP01215
Known GenesHK3, UNC5A
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)nsv462562
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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