A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16949508



Internal ID33687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67704727..67704817hg38UCSC Ensembl
chr4:68570445..68570535hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461324
Supporting Variants
Samples
Known GenesUBA6-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16949508
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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