A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182216



Internal ID22336978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:36906471..36906813hg38UCSC Ensembl
chr4:36908093..36908435hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6553n152
Supporting Variantsnssv14409158
SamplesNA19240
Known Genes
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)nsv3182216
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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