A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534536



Internal ID310325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69491155..69491170hg38UCSC Ensembl
chr17:67487296..67487311hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714280
Samples
Known GenesMAP2K6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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