A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189807



Internal ID22340966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37437675..37438002hg38UCSC Ensembl
chr7:37477278..37477605hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8477n152
Supporting Variantsnssv14435862, nssv14453707, nssv14381314
SamplesNA19240, HG00733, HG00514
Known GenesELMO1
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)nsv3189807
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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