A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972994



Internal ID22747929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58574072..58574887hg38UCSC Ensembl
chr14:59040790..59041605hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373221
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972994
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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