A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408239



Internal ID22329544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48521449..48521612hg38UCSC Ensembl
chr2:48748588..48748751hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232866
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408239
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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