A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324506



Internal ID22227003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172570746..172570822hg38UCSC Ensembl
chr5:171997749..171997825hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525076
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324506
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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