A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483552



Internal ID21141105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66847417..66847649hg38UCSC Ensembl
chr14:67314135..67314367hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019993
Samples
Known GenesGPHN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483552
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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