A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973794



Internal ID22748729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195957423..196223790hg38UCSC Ensembl
chr3:195684294..195950661hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38266368
hg19266368
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1533n209
Supporting Variantsnssv17424629
Samples
Known GenesLINC00885, SDHAP1, SLC51A, TFRC, ZDHHC19
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973794
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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