A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978532



Internal ID53063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167297155..167297215hg38UCSC Ensembl
chr5:166724160..166724220hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469970
Supporting Variants
Samples
Known GenesTENM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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