A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299486



Internal ID22186117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190203750..190203802hg38UCSC Ensembl
chr1:190172880..190172932hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525515
Supporting Variants
SamplesHG00731
Known GenesBRINP3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299486
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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