A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964918



Internal ID43925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51474044..51474805hg38UCSC Ensembl
chr5:50769878..50770639hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469170
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964918
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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