A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367178



Internal ID22273891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116533001..116535700hg38UCSC Ensembl
chr12:116970806..116973505hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228040
Supporting Variants
SamplesNA19239
Known GenesLINC00173
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367178
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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