A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178068



Internal ID22334785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183642184..183642356hg38UCSC Ensembl
chr4:184563337..184563509hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7001n152
Supporting Variantsnssv14409549
SamplesNA19240
Known GenesRWDD4
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)nsv3178068
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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