A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970428



Internal ID22745363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69449580..69449580hg38UCSC Ensembl
chr17:67445721..67445721hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386805
Samples
Known GenesMAP2K6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970428
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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