A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976306



Internal ID22751241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18268238..18289887hg38UCSC Ensembl
chr11:18289785..18311434hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3821650
hg1921650
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366088
Samples
Known GenesHPS5, SAA1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976306
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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