A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971941



Internal ID48646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112371807..112395807hg38UCSC Ensembl
chr5:111707504..111731504hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3824001
hg1924001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468503
Supporting Variants
Samples
Known GenesEPB41L4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971941
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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