A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18246316



Internal ID20813356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4262367..4610905hg38UCSC Ensembl
chr19:4262364..4610917hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38348539
hg19348554
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6598603
Supporting Variants
Samples
Known GenesCCDC94, CHAF1A, FSD1, HDGFRP2, LRG1, MIR4746, MPND, PLIN4, PLIN5, SEMA6B, SH3GL1, SHD, STAP2, TMIGD2, UBXN6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18246316
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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