A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965610



Internal ID44390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54703502..54703537hg38UCSC Ensembl
chr5:53999330..53999365hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554977
Supporting Variants
Samples
Known GenesLOC102467080
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965610
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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