A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538644



Internal ID15157861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154665720..154686645hg38UCSC Ensembl
Innerchr5:154045280..154066205hg19UCSC Ensembl
Innerchr5:154025473..154046398hg18UCSC Ensembl
Innerchr5:154025473..154046398hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3820926
hg1920926
hg1820926
hg1720926
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462491
Supporting Variants
Samples1782681296_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)nssv538644
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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