A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944019



Internal ID30006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3058054..3068079hg38UCSC Ensembl
chr4:3059781..3069806hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3810026
hg1910026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436433
Supporting Variants
Samples
Known GenesHTT-AS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010306


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer