A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984753



Internal ID57219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44157455..44159910hg38UCSC Ensembl
chr6:44125192..44127647hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382456
hg192456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463827
Supporting Variants
Samples
Known GenesCAPN11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984753
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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