A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460096



Internal ID15173475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216104519..216166605hg38UCSC Ensembl
Innerchr2:216969242..217031328hg19UCSC Ensembl
Innerchr2:216677487..216739573hg18UCSC Ensembl
Innerchr2:216794748..216856834hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3862087
hg1962087
hg1862087
hg1762087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536716
Samples1780854288_A
Known GenesXRCC5
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)nsv460096
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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