A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217931



Internal ID22363441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46237377..46238290hg38UCSC Ensembl
chr12:46631160..46632073hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38914
hg19914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364638, nssv14364637
SamplesNA19239, NA19240
Known GenesSLC38A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217931
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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