A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247431



Internal ID22376716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25450818..25450879hg38UCSC Ensembl
chr12:25603752..25603813hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395207, nssv14421835, nssv14448347
SamplesNA19240, HG00733, HG00514
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)nsv3247431
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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