A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178872



Internal ID20745912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12058331..12124163hg38UCSC Ensembl
chr10:12100330..12166162hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3865833
hg1965833
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6442697
Supporting Variants
Samples
Known GenesDHTKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178872
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00326


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