A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15197498



Internal ID21336294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114123340..114123663hg38UCSC Ensembl
chr5:113459037..113459360hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952392
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15197498
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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