A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019737



Internal ID20586777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50252401..50260300hg38UCSC Ensembl
chr14:50719119..50727018hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387900
hg197900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478310
Supporting Variants
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019737
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00143


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