A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973718



Internal ID22748653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127817517..127817596hg38UCSC Ensembl
chr8:128829763..128829842hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17431944
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973718
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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