A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18246739



Internal ID20813779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52978741..53338461hg38UCSC Ensembl
chr19:53481994..53841714hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38359721
hg19359721
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6596314
Supporting Variants
Samples
Known GenesBIRC8, ERVV-1, ERVV-2, FAM90A27P, VN1R2, VN1R4, ZNF160, ZNF347, ZNF415, ZNF665, ZNF677, ZNF702P, ZNF818P, ZNF845
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18246739
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00154


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