A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438242



Internal ID216810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218583725..218584655hg38UCSC Ensembl
chr2:219448448..219449378hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928244
Samples
Known GenesRQCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438242
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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