A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971322



Internal ID22746257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40851175..40856613hg38UCSC Ensembl
chr5:40851277..40856715hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg385439
hg195439
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425356
Samples
Known GenesCARD6
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971322
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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