A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538233



Internal ID15503708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3678544..3700054hg38UCSC Ensembl
Innerchr5:3678658..3700168hg19UCSC Ensembl
Innerchr5:3731658..3753168hg18UCSC Ensembl
Innerchr5:3731658..3753168hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3821511
hg1921511
hg1821511
hg1721511
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461915
Supporting Variants
Samples1780862401_A
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)nssv538233
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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