A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294747



Internal ID22130117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165761972..165762262hg38UCSC Ensembl
chr1:165731209..165731499hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199698
Supporting Variants
SamplesHG00513
Known GenesTMCO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294747
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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