A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979500



Internal ID22754435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:22252993..27920987hg38UCSC Ensembl
chr21:23625313..29293306hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg385667995
hg195667994
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389667
Samples
Known GenesADAMTS1, ADAMTS5, APP, ATP5J, CYYR1, D21S2088E, GABPA, JAM2, LINC00113, LINC00158, LINC00515, LOC339622, MIR155, MIR155HG, MIR4759, MIR5009, MRPL39
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979500
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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