A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14328261



Internal ID22136967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45914771..45915136hg38UCSC Ensembl
chr6:45882508..45882873hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194463
Supporting Variants
SamplesHG00513
Known GenesCLIC5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14328261
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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