A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974634



Internal ID50467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146100824..146100824hg38UCSC Ensembl
chr5:145480387..145480387hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545081
Supporting Variants
Samples
Known GenesPLAC8L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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