A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977306



Internal ID52269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154739298..154744655hg38UCSC Ensembl
chr5:154118858..154124215hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg385358
hg195358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463925
Supporting Variants
Samples
Known GenesLARP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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