A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213111



Internal ID22360158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77036491..77036814hg38UCSC Ensembl
chr12:77430271..77430594hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362811
SamplesHG00512
Known GenesE2F7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213111
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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