A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364788



Internal ID22263837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50135208..50135312hg38UCSC Ensembl
chr12:50528991..50529095hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224593
Supporting Variants
SamplesNA19238
Known GenesCERS5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364788
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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