A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524055



Internal ID22393484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:74716261..74716579hg38UCSC Ensembl
chr3:74765412..74765730hg19UCSC Ensembl
Cytoband3p12.3
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 Variantsnssv14306220, nssv14306219, nssv14306221
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524055
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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