A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460107



Internal ID15520172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:220406407..220436051hg38UCSC Ensembl
Innerchr2:221271128..221300772hg19UCSC Ensembl
Innerchr2:220979372..221009016hg18UCSC Ensembl
Innerchr2:221096633..221126277hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3829645
hg1929645
hg1829645
hg1729645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536724
SamplesNINDS_135
Known Genes
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)nsv460107
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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