A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710718



Internal ID134384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:830179..834045hg38UCSC Ensembl
chr17:733419..737285hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383867
hg193867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533224
Supporting Variants
Samples
Known GenesNXN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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