A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556823



Internal ID329949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218060317..218135904hg38UCSC Ensembl
chr2:218925040..219000627hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3875588
hg1975588
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923870
Samples
Known GenesCXCR2, CXCR2P1, RUFY4
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556823
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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