A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020232



Internal ID20587272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54777016..54778969hg38UCSC Ensembl
chr14:55243734..55245687hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg381954
hg191954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6484460
Supporting Variants
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020232
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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