A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843563



Internal ID22027206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9230270..9230270hg38UCSC Ensembl
chr12:9382866..9382866hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6240647
Supporting Variants
Samples
Known GenesA2MP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843563
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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