A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460102



Internal ID15520167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217788224..217810476hg38UCSC Ensembl
Innerchr2:218652947..218675199hg19UCSC Ensembl
Innerchr2:218361192..218383444hg18UCSC Ensembl
Innerchr2:218478453..218500705hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3822253
hg1922253
hg1822253
hg1722253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536721
Samples1780862226_A
Known GenesTNS1
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)nsv460102
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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