A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972883



Internal ID22747818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69491108..69491108hg38UCSC Ensembl
chr17:67487249..67487249hg19UCSC 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 Variantsnssv17376588
Samples
Known GenesMAP2K6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972883
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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