A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202382



Internal ID22351556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144615430..144615501hg38UCSC Ensembl
chr5:143994993..143995064hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323549
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202382
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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