A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16949026



Internal ID33371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55863797..55863848hg38UCSC Ensembl
chr4:56729963..56730014hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385994
hg195994
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556399
Supporting Variants
Samples
Known GenesEXOC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16949026
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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