A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557735



Internal ID22426540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52869942..52869942hg38UCSC Ensembl
chr1:53335614..53335614hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441246
SamplesHG00733
Known GenesZYG11A
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)nsv3557735
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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