A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459943



Internal ID8486990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168900420..168942500hg38UCSC Ensembl
Innerchr2:169756930..169799010hg19UCSC Ensembl
Innerchr2:169465176..169507256hg18UCSC Ensembl
Innerchr2:169582437..169624517hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3842081
hg1942081
hg1842081
hg1742081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536590
Samples1780854449_A
Known GenesABCB11, G6PC2
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)nsv459943
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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