A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461677



Internal ID15521742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:148873132..148982830hg38UCSC Ensembl
Innerchr4:149794284..149903982hg19UCSC Ensembl
Innerchr4:150013734..150123432hg18UCSC Ensembl
Innerchr4:150151889..150261587hg17UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38109699
hg19109699
hg18109699
hg17109699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538038
SamplesHGDP00959
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)nsv461677
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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