A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976352



Internal ID22751287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52993100..52993944hg38UCSC Ensembl
chr14:53459818..53460662hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386729
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976352
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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