A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287252



Internal ID22157929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18724802..18724802hg38UCSC Ensembl
chr19:18835612..18835612hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561371
Supporting Variants
SamplesHG00514
Known GenesCRTC1
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)nssv14287252
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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