A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561371



Internal ID22430153
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287252, nssv14287251, nssv14287253, nssv14287250, nssv14287254
SamplesHG00512, HG00732, HG00733, HG00513, HG00514
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)nsv3561371
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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