A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409549



Internal ID22313002
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 StatusS
Merged Variantsnsv3178068
Supporting Variants
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)nssv14409549
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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