A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6431005



Internal ID21088558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47967059..48023595hg38UCSC Ensembl
chr8:48879619..48936155hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3856537
hg1956537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18221650
Samples
Known GenesMCM4, UBE2V2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6431005
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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