A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240581



Internal ID22374740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21080428..21080531hg38UCSC Ensembl
chr2:21303300..21303403hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465900
SamplesHG00733
Known Genes
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)nsv3240581
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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