A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713518



Internal ID137184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47820543..47821403hg38UCSC Ensembl
chr17:45897909..45898769hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514273
Supporting Variants
Samples
Known GenesOSBPL7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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