A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325738



Internal ID22290396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138572247..138572247hg38UCSC Ensembl
chr5:137907936..137907936hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563531
Supporting Variants
SamplesNA19240
Known GenesHSPA9
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)nssv14325738
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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