A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428143



Internal ID22486013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:11384215..11532646hg38UCSC Ensembl
chr4:11385839..11534270hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38148432
hg19148432
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5977538
Supporting Variants
Samples
Known GenesHS3ST1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428143
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