A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461619



Internal ID15521684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:114408176..114517952hg38UCSC Ensembl
Innerchr4:115329332..115439108hg19UCSC Ensembl
Innerchr4:115548781..115658557hg18UCSC Ensembl
Innerchr4:115686936..115796712hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38109777
hg19109777
hg18109777
hg17109777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv665n27
Supporting Variantsnssv537993
SamplesHGDP00579
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)nsv461619
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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