A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218257



Internal ID22363655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4271201..4275350hg38UCSC Ensembl
chr12:4380367..4384516hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg384150
hg194150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362533, nssv14362530, nssv14362528, nssv14362532, nssv14362534, nssv14362526, nssv14362529, nssv14362531, nssv14362527
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCCND2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218257
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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