A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203449



Internal ID22352460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139110068..139110170hg38UCSC Ensembl
chr5:138445757..138445859hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325763, nssv14325762
SamplesNA19238, NA19240
Known GenesSIL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203449
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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