A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17029209



Internal ID87171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12058346..12124178hg38UCSC Ensembl
chr10:12100345..12166177hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3865833
hg1965833
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141674
Supporting Variants
Samples
Known GenesDHTKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17029209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006871


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