A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244930



Internal ID22049540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144381760..144381760hg38UCSC Ensembl
chr5:143761323..143761323hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17856390
Samples
Known GenesKCTD16
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244930
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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