A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248723



Internal ID22053333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131755031..131755031hg38UCSC Ensembl
chr12:132239576..132239576hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844006
Samples
Known GenesSFSWAP
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248723
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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