A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430517



Internal ID21088070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66444712..66452292hg38UCSC Ensembl
chr8:67356947..67364527hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg387581
hg197581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18169408
Samples
Known GenesADHFE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430517
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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