A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382353



Internal ID22316199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138171023..138171182hg38UCSC Ensembl
chr6:138492160..138492319hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233418
Supporting Variants
SamplesNA19240
Known GenesKIAA1244
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)nssv14382353
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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