A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844297



Internal ID22027940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57353111..57353111hg38UCSC Ensembl
chr12:57746894..57746894hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241062
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844297
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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