A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043458



Internal ID96692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133197130..133249130hg38UCSC Ensembl
chr10:135010634..135062634hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3852001
hg1952001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143368
Supporting Variants
Samples
Known GenesKNDC1, MIR202, MIR202HG, UTF1, VENTX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043458
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000336


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