A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486999



Internal ID264348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125481288..125481351hg38UCSC Ensembl
chr9:128243567..128243630hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028706
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486999
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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