A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976721



Internal ID51868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172253661..172254307hg38UCSC Ensembl
chr5:171680665..171681311hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467320
Supporting Variants
Samples
Known GenesUBTD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976721
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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