A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461668



Internal ID15175047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144000454..144114635hg38UCSC Ensembl
Innerchr4:144921607..145035788hg19UCSC Ensembl
Innerchr4:145141057..145255238hg18UCSC Ensembl
Innerchr4:145279212..145393393hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38114182
hg19114182
hg18114182
hg17114182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv669n27
Supporting Variantsnssv538029
SamplesHGDP00106
Known GenesGYPA, GYPB
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)nsv461668
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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