A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400075



Internal ID179459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120955199..120955250hg38UCSC Ensembl
chr9:123717477..123717528hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028517
Samples
Known GenesC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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