A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978184



Internal ID52855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176749324..176961324hg38UCSC Ensembl
chr5:176176325..176388325hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38212001
hg19212001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140391
Supporting Variants
Samples
Known GenesHK3, UIMC1, UNC5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978184
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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