A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189799



Internal ID22340962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87576036..87576512hg38UCSC Ensembl
chr6:88285754..88286230hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436346, nssv14412433
SamplesNA19240, HG00514
Known GenesRARS2
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)nsv3189799
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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