A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977715



Internal ID52534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178047324..178055324hg38UCSC Ensembl
chr5:177474325..177482325hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140412
Supporting Variants
Samples
Known GenesFAM153C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001303


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