A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408249



Internal ID22295610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103944017..103944129hg38UCSC Ensembl
chr2:104560475..104560587hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235440
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408249
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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