A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224082



Internal ID22367630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30793801..30797250hg38UCSC Ensembl
chr12:30946735..30950184hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383450
hg193450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362459, nssv14362462, nssv14362467, nssv14362463, nssv14362460, nssv14362466, nssv14362465, nssv14362464, nssv14362461
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00941
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224082
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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