A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948822



Internal ID33239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37992759..37993070hg38UCSC Ensembl
chr4:37994380..37994691hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460064
Supporting Variants
Samples
Known GenesTBC1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948822
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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