A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711937



Internal ID135603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18587111..18659111hg38UCSC Ensembl
chr17:18490425..18562424hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3872001
hg1972000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144962
Supporting Variants
Samples
Known GenesCCDC144B, TBC1D28, ZNF286B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711937
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000161


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