A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844407



Internal ID22028050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98974589..98974589hg38UCSC Ensembl
chr12:99368367..99368367hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248499
Supporting Variants
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844407
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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