A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969488



Internal ID22744423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:27991219..28043230hg38UCSC Ensembl
chr14:28460425..28512436hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3852012
hg1952012
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370816
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969488
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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