A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460512



Internal ID15520577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:41318043..41744517hg38UCSC Ensembl
Innerchr3:41359534..41786009hg19UCSC Ensembl
Innerchr3:41334538..41761013hg18UCSC Ensembl
Innerchr3:41334538..41761013hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38426475
hg19426476
hg18426476
hg17426476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537070
Samples1798860049_A
Known GenesULK4
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)nsv460512
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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