A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16959847



Internal ID40541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:164884533..164903063hg38UCSC Ensembl
chr4:165805685..165824215hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3818531
hg1918531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458747
Supporting Variants
Samples
Known GenesLOC100506013
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16959847
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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