A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425356



Internal ID22483226
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 StatusS
Merged Variantsnsv5971322
Supporting Variants
Samples
Known GenesCARD6
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425356
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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