A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844153



Internal ID22027796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75870295..75870295hg38UCSC Ensembl
chr12:76264075..76264075hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241236
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844153
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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