A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964488



Internal ID43627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40748939..40753591hg38UCSC Ensembl
chr5:40749041..40753693hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg384653
hg194653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461273
Supporting Variants
Samples
Known GenesTTC33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964488
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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