A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195043



Internal ID20762083
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 StatusS
Merged Variantsnsv6452172
Supporting Variants
Samples
Known GenesBUB3, HMX2, HMX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195043
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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