A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713318



Internal ID136984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44799432..44800297hg38UCSC Ensembl
chr17:42876800..42877665hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520980
Supporting Variants
Samples
Known GenesGJC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713318
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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