A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560081



Internal ID22423366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53930528..53930528hg38UCSC Ensembl
chr12:54324312..54324312hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363496, nssv14363494, nssv14363495, nssv14363493, nssv14363492, nssv14363489, nssv14363491, nssv14363490
SamplesHG00512, 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)nsv3560081
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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