A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974170



Internal ID22749105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47718633..47720063hg38UCSC Ensembl
chr2:47945772..47947202hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381431
hg191431
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408560
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974170
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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