A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457174



Internal ID8484221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43762402..44145770hg38UCSC Ensembl
Innerchr2:43989541..44372909hg19UCSC Ensembl
Innerchr2:43843045..44226413hg18UCSC Ensembl
Innerchr2:43901192..44284560hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38383369
hg19383369
hg18383369
hg17383369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534419
SamplesHGDP01104
Known GenesABCG5, ABCG8, DYNC2LI1, LRPPRC, PLEKHH2
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)nsv457174
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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