A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944001



Internal ID29994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2940424..3030121hg38UCSC Ensembl
chr4:2942151..3031848hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3889698
hg1989698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447941
Supporting Variants
Samples
Known GenesGRK4, NOP14, NOP14-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944001
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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