A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415728



Internal ID22473598
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 StatusS
Merged Variantsnsv5968551
Supporting Variants
Samples
Known GenesMED12L
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415728
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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