A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3275592



Internal ID22377767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20505783..20505900hg38UCSC Ensembl
chr14:20973942..20974059hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461037
SamplesHG00733
Known Genes
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)nsv3275592
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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