A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182454



Internal ID22337105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143815689..143815868hg38UCSC Ensembl
chr5:143195254..143195433hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410886
SamplesNA19240
Known GenesHMHB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3182454
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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