A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3174980



Internal ID22333108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104974752..104975088hg38UCSC Ensembl
chr7:104615199..104615535hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8701n152
Supporting Variantsnssv14438340, nssv14457365
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)nsv3174980
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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