A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460456



Internal ID15520521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:20263740..20395001hg38UCSC Ensembl
Innerchr3:20305232..20436493hg19UCSC Ensembl
Innerchr3:20280236..20411497hg18UCSC Ensembl
Innerchr3:20280236..20411497hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38131262
hg19131262
hg18131262
hg17131262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537024
SamplesNINDS_216
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)nsv460456
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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