A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198718



Internal ID22348408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119478836..119479205hg38UCSC Ensembl
chr3:119197683..119198052hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309253, nssv14309254, nssv14309252
SamplesHG00731, NA19240, HG00514
Known GenesPOGLUT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198718
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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