A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315995



Internal ID20849071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233057406..233060846hg38UCSC Ensembl
chr1:233193152..233196592hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383441
hg193441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058776
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315995
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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