A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845480



Internal ID22029123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81308195..81308195hg38UCSC Ensembl
chr12:81701974..81701974hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241281
Supporting Variants
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845480
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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