A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943975



Internal ID29977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2641950..2641953hg38UCSC Ensembl
chr4:2643677..2643680hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533972
Supporting Variants
Samples
Known GenesFAM193A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943975
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002342


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