A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975466



Internal ID22750401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34503767..34509615hg38UCSC Ensembl
chr1:34969368..34975216hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg385849
hg195849
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378407
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975466
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