A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17349942



Internal ID22575611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12058331..12124162hg38UCSC Ensembl
chr10:12100330..12166161hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3865832
hg1965832
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5925692
Supporting Variants
Samples
Known GenesDHTKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17349942
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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