A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3273943



Internal ID22377684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23257736..23257863hg38UCSC Ensembl
chr1:23584229..23584356hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383513
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3273943
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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