A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7001n152



Internal ID22822704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183642183..183642358hg38UCSC Ensembl
chr4:184563336..184563511hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3170966, nsv3188865, nsv3178068
SamplesNA19240, HG00733, HG00514
Known GenesRWDD4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7001n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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