A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711275



Internal ID134941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8415958..8422984hg38UCSC Ensembl
chr17:8319276..8326302hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg387027
hg197027
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146053
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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