A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843909



Internal ID22027552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51320652..51320652hg38UCSC Ensembl
chr12:51714436..51714436hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241034
Supporting Variants
Samples
Known GenesBIN2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843909
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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