A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977704



Internal ID52526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178005324..178011324hg38UCSC Ensembl
chr5:177432325..177438325hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141074
Supporting Variants
Samples
Known GenesFAM153C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977704
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.173571


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