A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484460



Internal ID21142013
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 StatusM
Merged Variants
Supporting Variantsnssv18020232
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484460
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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