A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970609



Internal ID22745544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247173821..247223748hg38UCSC Ensembl
chr1:247337123..247387050hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3849928
hg1949928
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17349655
Samples
Known GenesMIR3916
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970609
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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