A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476725



Internal ID21134278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21237897..21289982hg38UCSC Ensembl
chr14:21706056..21758141hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3852086
hg1952086
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187675
Samples
Known GenesHNRNPC, RPGRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476725
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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