A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173047



Internal ID22332127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67538296..67538625hg38UCSC Ensembl
chr9:65906803..65907123hg19UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg38330
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439753, nssv14439231
SamplesHG00733, HG00514
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)nsv3173047
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer