A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538013



Internal ID15504879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:132700517..132782113hg38UCSC Ensembl
Innerchr4:133621672..133703268hg19UCSC Ensembl
Innerchr4:133841122..133922718hg18UCSC Ensembl
Innerchr4:133979277..134060873hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3881597
hg1981597
hg1881597
hg1781597
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461646
Supporting Variants
Samples1798860567_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)nssv538013
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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