A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975250



Internal ID22750185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:84019019..84020342hg38UCSC Ensembl
chr4:84940172..84941495hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg381324
hg191324
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427304
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975250
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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