A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388607



Internal ID22272794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77578810..77578810hg38UCSC Ensembl
chr14:78045153..78045153hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560365
Supporting Variants
SamplesNA19239
Known GenesSPTLC2
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)nssv14388607
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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