A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004553



Internal ID70665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144663778..144664403hg38UCSC Ensembl
chr7:144360871..144361496hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490717
Supporting Variants
Samples
Known GenesTPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004553
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.134778


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