A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199545



Internal ID22349113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117097781..117097910hg38UCSC Ensembl
chr5:116433477..116433606hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14322455, nssv14322454
SamplesHG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199545
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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