A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981430



Internal ID54990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44882000..44888000hg38UCSC Ensembl
chr6:44849737..44855737hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462786
Supporting Variants
Samples
Known GenesSUPT3H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981430
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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