A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713531



Internal ID137197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47965825..47969275hg38UCSC Ensembl
chr17:46043191..46046641hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383451
hg193451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533716
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713531
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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