A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554249



Internal ID327445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185017801..185106645hg38UCSC Ensembl
chr3:184735589..184824433hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3888845
hg1988845
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943071
Samples
Known GenesC3orf70, VPS8
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554249
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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