A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557448



Internal ID22426254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195568376..195568376hg38UCSC Ensembl
chr2:196433100..196433100hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14447699
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557448
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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