A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968551



Internal ID22743486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151429114..151430182hg38UCSC Ensembl
chr3:151146902..151147970hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415728
Samples
Known GenesMED12L
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968551
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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