A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711247



Internal ID134913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8173111..8189111hg38UCSC Ensembl
chr17:8076429..8092429hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144697
Supporting Variants
Samples
Known GenesC17orf59, MIR4521, TMEM107
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000958


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