A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975998



Internal ID22750933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:15410359..15841527hg38UCSC Ensembl
chr14:19256490..19706892hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38431169
hg19450403
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399865
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975998
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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