A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020712



Internal ID20587752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64973834..64977655hg38UCSC Ensembl
chr14:65440552..65444373hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg383822
hg193822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477628
Supporting Variants
Samples
Known GenesCHURC1-FNTB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020712
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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