A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320706



Internal ID22205848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2025444..2025496hg38UCSC Ensembl
chr5:2025558..2025610hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525944
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320706
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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