A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176173



Internal ID22333747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4346660..4346972hg38UCSC Ensembl
chr9:4346660..4346972hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9463n152
Supporting Variantsnssv14437326
SamplesHG00733
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)nsv3176173
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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