A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216092



Internal ID22362206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144615431..144615502hg38UCSC Ensembl
chr5:143994994..143995065hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV herv deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436847
SamplesHG00514
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)nsv3216092
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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