A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243478



Internal ID22048088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173525104..173525104hg38UCSC Ensembl
chr2:174389832..174389832hg19UCSC Ensembl
Cytoband2q31.1
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 Variantsnssv17851057
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243478
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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