A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523531



Internal ID22392959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:97183894..97184197hg38UCSC Ensembl
chr7:96813206..96813509hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14335512, nssv14335513
SamplesNA19239, 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)nsv3523531
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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