A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554829



Internal ID328002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125531903..125531941hg38UCSC Ensembl
chr9:128294182..128294220hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028710
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554829
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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