A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541911



Internal ID302689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45262504..45262511hg38UCSC Ensembl
chr17:43339871..43339878hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713360
Samples
Known GenesMAP3K14-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541911
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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