A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458870



Internal ID15518935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:12598696..12627423hg38UCSC Ensembl
Innerchr20:12579343..12608070hg19UCSC Ensembl
Innerchr20:12527343..12556070hg18UCSC Ensembl
Innerchr20:12527343..12556070hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3828728
hg1928728
hg1828728
hg1728728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535740
Samples1780862459_A
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)nsv458870
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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