A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538297



Internal ID15502838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18665041..18726551hg38UCSC Ensembl
Innerchr5:18665150..18726660hg19UCSC Ensembl
Innerchr5:18700907..18762417hg18UCSC Ensembl
Innerchr5:18700907..18762417hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3861511
hg1961511
hg1861511
hg1761511
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461996
Supporting Variants
Samples1780854566_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)nssv538297
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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