A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557181



Internal ID330288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218583717..218583725hg38UCSC Ensembl
chr2:219448440..219448448hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg389
hg199
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928242
Samples
Known GenesRQCD1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557181
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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