A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6452172



Internal ID21109725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123089191..123449664hg38UCSC Ensembl
chr10:124848707..125209180hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38360474
hg19360474
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195043
Samples
Known GenesBUB3, HMX2, HMX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6452172
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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