A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971538



Internal ID22746473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39309731..39889526hg38UCSC Ensembl
chr21:40681657..41261451hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38579796
hg19579795
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407297
Samples
Known GenesB3GALT5, BRWD1, BRWD1-AS1, BRWD1-IT2, C21orf88, HMGN1, IGSF5, LCA5L, MIR6508, PCP4, SH3BGR, WRB
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971538
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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