A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549047



Internal ID322748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77356668..77356719hg38UCSC Ensembl
chr9:79971584..79971635hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025959
Samples
Known GenesVPS13A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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