A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977714



Internal ID52533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178039306..178046412hg38UCSC Ensembl
chr5:177466307..177473413hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387107
hg197107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463175
Supporting Variants
Samples
Known GenesFAM153C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977714
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006688


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