A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972498



Internal ID49022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:101606505..101915615hg38UCSC Ensembl
chr5:100942209..101251319hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38309111
hg19309111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468213
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972498
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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