A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530030



Internal ID22399421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121792101..121792154hg38UCSC Ensembl
chr12:122230007..122230060hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365923, nssv14365924, nssv14365922, nssv14365926, nssv14365925
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known GenesRHOF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530030
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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