A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987475



Internal ID59091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116748521..116750510hg38UCSC Ensembl
chr6:117069684..117071673hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg381990
hg191990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456529
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987475
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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