A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978149



Internal ID22753084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30509454..30517917hg38UCSC Ensembl
chrX:30527571..30536034hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg388464
hg198464
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17469057
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978149
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