A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367200



Internal ID22185396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117335824..117335958hg38UCSC Ensembl
chr12:117773629..117773763hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527854
Supporting Variants
SamplesHG00731
Known GenesNOS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367200
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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