A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232893



Internal ID22372622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:84650297..84653656hg38UCSC Ensembl
chr3:84699448..84702807hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg383360
hg193360
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14453751
SamplesHG00733
Known GenesLINC00971
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232893
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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