A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460435



Internal ID15173814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12813127..12976988hg38UCSC Ensembl
Innerchr3:12854626..13018488hg19UCSC Ensembl
Innerchr3:12829626..12993488hg18UCSC Ensembl
Innerchr3:12829626..12993488hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38163862
hg19163863
hg18163863
hg17163863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537013
Samples1780862019_A
Known GenesCAND2, IQSEC1, RPL32, SNORA7A
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)nsv460435
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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