A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242121



Internal ID22375178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207349191..207349278hg38UCSC Ensembl
chr2:208213915..208214002hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406512
SamplesNA19240
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)nsv3242121
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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