A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004698



Internal ID70769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144738804..144760804hg38UCSC Ensembl
chr7:144435897..144457897hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3822001
hg1922001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478081
Supporting Variants
Samples
Known GenesTPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004698
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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