A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6424271



Internal ID21081824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116606390..116854663hg38UCSC Ensembl
chr8:117618629..117866902hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38248274
hg19248274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18221350
Samples
Known GenesEIF3H, RAD21, UTP23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6424271
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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