A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523103



Internal ID22392528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50484753..50485081hg38UCSC Ensembl
chr6:50452466..50452794hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7891n152
Supporting Variantsnssv14328371, nssv14328370, nssv14328369, nssv14328368
SamplesNA19238, NA19239, HG00732, NA19240
Known Genes
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)nsv3523103
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer