A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949838



Internal ID22725277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125557649..125557649hg38UCSC Ensembl
chr9:128319928..128319928hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432286
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949838
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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