A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713917



Internal ID137583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59975980..59989990hg38UCSC Ensembl
chr17:58053341..58067351hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3814011
hg1914011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520634
Supporting Variants
Samples
Known GenesTBC1D3P1-DHX40P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713917
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000782


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