A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16934347



Internal ID23629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:78708991..78709085hg38UCSC Ensembl
chr3:78758141..78758235hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439144
Supporting Variants
Samples
Known GenesROBO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16934347
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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