A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488492



Internal ID21146045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50004551..50068941hg38UCSC Ensembl
chr14:50471269..50535659hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3864391
hg1964391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188842
Samples
Known GenesC14orf182, LOC100506499
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488492
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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