A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975511



Internal ID22750446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66986955..66987364hg38UCSC Ensembl
chr1:67452638..67453047hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375756
Samples
Known GenesMIER1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975511
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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