A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527745



Internal ID22397132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77982216..77982400hg38UCSC Ensembl
chr12:78375996..78376180hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362841, nssv14362842
SamplesHG00732, HG00513
Known GenesNAV3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527745
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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