A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977521



Internal ID22752456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49933411..49934598hg38UCSC Ensembl
chr20:48549948..48551135hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393005
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977521
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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