A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019730



Internal ID20586770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50249501..50260300hg38UCSC Ensembl
chr14:50716219..50727018hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3810800
hg1910800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483919
Supporting Variants
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019730
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0028


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