A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436831



Internal ID22180001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132680584..132680654hg38UCSC Ensembl
chr5:132016276..132016346hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242699
Supporting Variants
SamplesHG00514
Known GenesIL4
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)nssv14436831
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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