A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213771



Internal ID22360609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124479851..124484150hg38UCSC Ensembl
chr12:124964397..124968696hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366052, nssv14366053, nssv14366054, nssv14366680, nssv14366051, nssv14366055, nssv14366049, nssv14366056, nssv14366050
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNCOR2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213771
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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