A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144962



Internal ID344167
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 StatusM
Merged Variants
Supporting Variantsnssv17711937
Samples
Known GenesCCDC144B, TBC1D28, ZNF286B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144962
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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