A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714827



Internal ID138493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78149961..78150259hg38UCSC Ensembl
chr17:76146042..76146340hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514790
Supporting Variants
Samples
Known GenesC17orf99
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714827
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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