A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190246



Internal ID22341176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123996887..123997205hg38UCSC Ensembl
chr7:123636941..123637259hg19UCSC Ensembl
Cytoband7q31.32
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 Variantsnssv14337389
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190246
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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