A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193515



Internal ID22343952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49746695..49755922hg38UCSC Ensembl
chr3:49784128..49793355hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg389228
hg199228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305081, nssv14305083, nssv14305082
SamplesNA19238, NA19239, NA19240
Known GenesIP6K1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193515
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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