A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086045



Internal ID20653085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48739680..48745742hg38UCSC Ensembl
chr2:48966819..48972881hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg386063
hg196063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337468
Supporting Variants
Samples
Known GenesLHCGR, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086045
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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