A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3174444



Internal ID22332813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:37940502..37940820hg38UCSC Ensembl
chr11:37962052..37962370hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357747, nssv14357748
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYG6 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3174444
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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