A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524144



Internal ID22393573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13855198..13855503hg38UCSC Ensembl
chr5:13855307..13855612hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7208n152
Supporting Variantsnssv14320303, nssv14320300, nssv14320302, nssv14320301
SamplesHG00512, NA19239, HG00732, HG00733
Known GenesDNAH5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524144
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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