A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944023



Internal ID30009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3077593..3080229hg38UCSC Ensembl
chr4:3079320..3081956hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382637
hg192637
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434385
Supporting Variants
Samples
Known GenesHTT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944023
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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