A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216467



Internal ID22362452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:87411719..87411780hg38UCSC Ensembl
chr9:90026634..90026695hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV herv deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381937
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)nsv3216467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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