A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531668



Internal ID22401018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51870887..51870887hg38UCSC Ensembl
chr7:51938583..51938583hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400280
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a HERV mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3531668
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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