A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206270



Internal ID22354836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134831692..134831809hg38UCSC Ensembl
chr5:134167382..134167499hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7532n152
Supporting Variantsnssv14325037, nssv14325036, nssv14325038
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206270
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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