A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14359511



Internal ID22197068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10117838..10125109hg38UCSC Ensembl
chr12:10270437..10277708hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg387272
hg197272
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212055
Supporting Variants
SamplesHG00731
Known GenesCLEC7A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14359511
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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