A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714280



Internal ID137946
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 StatusS
Merged Variantsnsv5534536
Supporting Variants
Samples
Known GenesMAP2K6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714280
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.048873


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