A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558585



Internal ID22427387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192857700..192857700hg38UCSC Ensembl
chr1:192826830..192826830hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441085
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)nsv3558585
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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