A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181787



Internal ID22336756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:36906470..36906810hg38UCSC Ensembl
chr4:36908092..36908432hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6553n152
Supporting Variantsnssv14314850, nssv14314851, nssv14314852
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)nsv3181787
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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