A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220938



Internal ID22365486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3464351..3468000hg38UCSC Ensembl
chr19:3464349..3467998hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383650
hg193650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4083n152
Supporting Variantsnssv14291253, nssv14291257, nssv14291252, nssv14291254, nssv14291259, nssv14291258, nssv14291260, nssv14291256, nssv14291255
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNFIC
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220938
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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