A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964484



Internal ID43624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40735766..40740480hg38UCSC Ensembl
chr5:40735868..40740582hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg384715
hg194715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456634
Supporting Variants
Samples
Known GenesTTC33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964484
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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