A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844461



Internal ID22028104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044600..105044600hg38UCSC Ensembl
chr12:105438378..105438378hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248548
Supporting Variants
Samples
Known GenesALDH1L2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844461
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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