A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243858



Internal ID22048468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12415613..12415613hg38UCSC Ensembl
chr1:12475666..12475666hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17856668
Samples
Known GenesVPS13D
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243858
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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