A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6490302



Internal ID21147855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21279036..21300256hg38UCSC Ensembl
chr14:21747195..21768415hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3821221
hg1921221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186913
Samples
Known GenesRPGRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6490302
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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