A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711883



Internal ID135549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18007754..18013626hg38UCSC Ensembl
chr17:17911068..17916940hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg385873
hg195873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521518
Supporting Variants
Samples
Known GenesLRRC48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711883
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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