A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460143



Internal ID15520208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:236195054..236263675hg38UCSC Ensembl
Innerchr2:237103697..237172318hg19UCSC Ensembl
Innerchr2:236768436..236837057hg18UCSC Ensembl
Innerchr2:236885697..236954318hg17UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3868622
hg1968622
hg1868622
hg1768622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536751
Samples1780862444_A
Known GenesASB18
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)nsv460143
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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