A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555587



Internal ID328741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213265097..213265097hg38UCSC Ensembl
chr1:213438440..213438440hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381
hg191
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896125
Samples
Known GenesRPS6KC1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555587
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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