A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978500



Internal ID22753435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204001755..204006327hg38UCSC Ensembl
chr1:203970883..203975455hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384573
hg194573
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353654
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978500
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