A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196513



Internal ID22346510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8727451..8730900hg38UCSC Ensembl
chr4:8729177..8732626hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg383450
hg193450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6451n152
Supporting Variantsnssv14311392, nssv14311391, nssv14311395, nssv14311398, nssv14311397, nssv14311394, nssv14311390, nssv14311393, nssv14311396
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196513
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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