A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6257788



Internal ID22062398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77341499..77341499hg38UCSC Ensembl
chr9:79956415..79956415hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17841485
Samples
Known GenesVPS13A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6257788
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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