A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559857



Internal ID332877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123670006..123673429hg38UCSC Ensembl
chr2:124427582..124431005hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383424
hg193424
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918160
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559857
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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