A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461378



Internal ID15521443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62171606..62292842hg38UCSC Ensembl
Innerchr4:63037324..63158560hg19UCSC Ensembl
Innerchr4:62719919..62841155hg18UCSC Ensembl
Innerchr4:62866090..62987326hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38121237
hg19121237
hg18121237
hg17121237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537766
SamplesHGDP00886
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)nsv461378
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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