A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713065



Internal ID136731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39904125..39906916hg38UCSC Ensembl
chr17:38060378..38063169hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382792
hg192792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523065
Supporting Variants
Samples
Known GenesGSDMB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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