A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724596



Internal ID148262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48730914..48731104hg38UCSC Ensembl
chr17:46808276..46808466hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531877
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724596
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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