A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17027971



Internal ID86341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125670522..125670573hg38UCSC Ensembl
chr9:128432801..128432852hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409870
Supporting Variants
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17027971
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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