A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18249544



Internal ID20816584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185994052..187137812hg38UCSC Ensembl
chr1:185963184..187106944hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381143761
hg191143761
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554110
Supporting Variants
Samples
Known GenesC1orf27, HMCN1, MIR548F1, OCLM, PDC, PLA2G4A, PRG4, PTGS2, RNU6-72P, TPR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18249544
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00072


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