A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560291



Internal ID333302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54703442..54703492hg38UCSC Ensembl
chr5:53999270..53999320hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965609
Samples
Known GenesLOC102467080
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560291
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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