A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537746



Internal ID15505475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45446013..45585282hg38UCSC Ensembl
Innerchr4:45448030..45587299hg19UCSC Ensembl
Innerchr4:45142787..45282056hg18UCSC Ensembl
Innerchr4:45288958..45428227hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38139270
hg19139270
hg18139270
hg17139270
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461352
Supporting Variants
SamplesHGDP00140
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)nssv537746
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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