A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324341



Internal ID22173095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150933267..150933267hg38UCSC Ensembl
chr5:150312829..150312829hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563865
Supporting Variants
SamplesHG00514
Known GenesZNF300P1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324341
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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