A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220625



Internal ID22365273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:82356425..82356493hg38UCSC Ensembl
chr1:82822108..82822176hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV herv deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404570
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a HERV mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220625
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer