A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461282



Internal ID15521347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:19033985..19303323hg38UCSC Ensembl
Innerchr4:19035608..19304946hg19UCSC Ensembl
Innerchr4:18644706..18914044hg18UCSC Ensembl
Innerchr4:18711877..18981215hg17UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38269339
hg19269339
hg18269339
hg17269339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537693
SamplesHGDP00161
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)nsv461282
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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