A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545719



Internal ID319735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218583717..218583717hg38UCSC Ensembl
chr2:219448440..219448440hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928243
Samples
Known GenesRQCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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