A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6423194



Internal ID21080747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51253024..51345540hg38UCSC Ensembl
chr8:52165584..52258100hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3892517
hg1992517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18227665
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6423194
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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