A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14333171



Internal ID22222652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:24905138..24905138hg38UCSC Ensembl
chr7:24944757..24944757hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565083
Supporting Variants
SamplesHG00733
Known GenesOSBPL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14333171
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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