A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528316



Internal ID22397703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88233994..88234847hg38UCSC Ensembl
chr12:88627771..88628624hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364832, nssv14364833
SamplesHG00512, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528316
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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