A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15197301



Internal ID21336097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46016093..46016143hg38UCSC Ensembl
chr6:45983830..45983880hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950469
Supporting Variants
SamplesHG002
Known GenesCLIC5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15197301
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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