A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364637



Internal ID22269572
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217931
Supporting Variants
SamplesNA19239
Known GenesSLC38A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364637
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer