A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379850



Internal ID22291843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74129593..74129668hg38UCSC Ensembl
chr11:73840638..73840713hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3272832
Supporting Variants
SamplesNA19240
Known GenesC2CD3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14379850
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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