A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529181



Internal ID22398574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62629317..62629396hg38UCSC Ensembl
chr12:63023097..63023176hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1878n152
Supporting Variantsnssv14365060, nssv14365059, nssv14365056, nssv14365058, nssv14365057
SamplesHG00512, NA19238, HG00731, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529181
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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