A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212310



Internal ID22359602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78687702..78687772hg38UCSC Ensembl
chr8:79599937..79600007hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341121, nssv14341120, nssv14341119, nssv14438509
SamplesHG00512, HG00513, HG00514
Known GenesZC2HC1A
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212310
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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