A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968330



Internal ID22743266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4175888..4194097hg38UCSC Ensembl
chr2:4223478..4241687hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3818210
hg1918210
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396152
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968330
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer