A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514794



Internal ID291285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38795860..38804994hg38UCSC Ensembl
chr17:36952113..36961247hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg389135
hg199135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712986
Samples
Known GenesCWC25, PIP4K2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514794
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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