A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538700



Internal ID15164472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178078020..178145926hg38UCSC Ensembl
Innerchr5:177505021..177572927hg19UCSC Ensembl
Innerchr5:177437627..177505533hg18UCSC Ensembl
Innerchr5:177437627..177505533hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3867907
hg1967907
hg1867907
hg1767907
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462567
Supporting Variants
SamplesHGDP01363
Known GenesN4BP3, RMND5B
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)nssv538700
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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