A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967934



Internal ID22742869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5658814..5764360hg38UCSC Ensembl
chr19:5658825..5764371hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38105547
hg19105547
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407329
Samples
Known GenesC19orf70, CATSPERD, HSD11B1L, LONP1, RPL36, SAFB
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967934
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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