A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978533



Internal ID22753468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111874989..111934351hg38UCSC Ensembl
chr5:111210686..111270048hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3859363
hg1959363
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17414776
Samples
Known GenesNREP, NREP-AS1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978533
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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