A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203725



Internal ID22352692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55687191..55695273hg38UCSC Ensembl
chr5:54983019..54991101hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg388083
hg198083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321612, nssv14321611
SamplesNA19238, NA19240
Known GenesSLC38A9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203725
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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