A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478312



Internal ID21135865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59630401..59631000hg38UCSC Ensembl
chr14:60097119..60097718hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18020435
Samples
Known GenesRTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478312
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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