A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172923



Internal ID22332056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61867910..61868044hg38UCSC Ensembl
chr11:61635382..61635516hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385843, nssv14444996, nssv14418218
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3172923
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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