A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245318



Internal ID22049928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160706718..160706718hg38UCSC Ensembl
chr1:160676508..160676508hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838919
Samples
Known GenesCD48
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245318
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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