A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857049



Internal ID22040692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67144009..67144009hg38UCSC Ensembl
chr5:66439837..66439837hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6260455
Supporting Variants
Samples
Known GenesMAST4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857049
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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