A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527303



Internal ID22396689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118083456..118083865hg38UCSC Ensembl
chr12:118521261..118521670hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367240, nssv14367241, nssv14365160, nssv14367243, nssv14367239, nssv14367242, nssv14367237, nssv14367238
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesVSIG10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527303
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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