A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248691



Internal ID22053301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126461966..126461966hg38UCSC Ensembl
chr12:126946512..126946512hg19UCSC Ensembl
Cytoband12q24.32
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 Variantsnssv17846206
Samples
Known GenesLOC100128554
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248691
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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