A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14288411



Internal ID22120923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150334090..150334540hg38UCSC Ensembl
chr1:150306561..150307011hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192626
Supporting Variants
SamplesHG00512
Known GenesPRPF3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14288411
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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