A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974018



Internal ID22748953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1686667..1708655hg38UCSC Ensembl
chr11:1707897..1729885hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3821989
hg1921989
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361768
Samples
Known GenesKRTAP5-6, MOB2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974018
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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