A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981699



Internal ID55157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43662511..43663322hg38UCSC Ensembl
chr6:43630248..43631059hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459751
Supporting Variants
Samples
Known GenesRSPH9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981699
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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