A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308032



Internal ID22265383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211434216..211434216hg38UCSC Ensembl
chr1:211607558..211607558hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561323
Supporting Variants
SamplesNA19238
Known Genes
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)nssv14308032
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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