A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213603



Internal ID22360501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79249116..79257531hg38UCSC Ensembl
chr12:79642896..79651311hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388416
hg198416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362909, nssv14362910, nssv14362911
SamplesNA19238, NA19239, NA19240
Known GenesSYT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213603
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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