A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321764



Internal ID22116595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115654880..115654953hg38UCSC Ensembl
chr5:114990577..114990650hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526290
Supporting Variants
SamplesHG00512
Known GenesLOC102467217
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321764
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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