A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972011



Internal ID22746946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57298076..57402405hg38UCSC Ensembl
chr8:58210635..58314964hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38104330
hg19104330
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429823
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972011
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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