A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460103



Internal ID15520168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217823873..217849963hg38UCSC Ensembl
Innerchr2:218688596..218714686hg19UCSC Ensembl
Innerchr2:218396841..218422931hg18UCSC Ensembl
Innerchr2:218514102..218540192hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3826091
hg1926091
hg1826091
hg1726091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536722
SamplesNINDS_50
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)nsv460103
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer