A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457163



Internal ID15517228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43257417..43326810hg38UCSC Ensembl
Innerchr2:43484556..43553949hg19UCSC Ensembl
Innerchr2:43338060..43407453hg18UCSC Ensembl
Innerchr2:43396207..43465600hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3869394
hg1969394
hg1869394
hg1769394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534415
SamplesNINDS_102
Known GenesTHADA
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)nsv457163
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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