A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186101



Internal ID22339016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27268191..27268351hg38UCSC Ensembl
chr7:27307810..27307970hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435826
SamplesHG00514
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)nsv3186101
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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