A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365444



Internal ID22145579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51092092..51092609hg38UCSC Ensembl
chr12:51485875..51486392hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223110
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365444
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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