A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244717



Internal ID22049327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115878937..115878937hg38UCSC Ensembl
chr5:115214634..115214634hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17859082
Samples
Known GenesAP3S1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244717
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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