A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193061



Internal ID22343556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1573401..1581050hg38UCSC Ensembl
chr4:1575128..1582777hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg387650
hg197650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14311742, nssv14311748, nssv14311747, nssv14311741, nssv14311743, nssv14311749, nssv14311745, nssv14311744, nssv14311746
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)nsv3193061
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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