A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700590



Internal ID124256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105248581..105248595hg38UCSC Ensembl
chr14:105714918..105714932hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538516
Supporting Variants
Samples
Known GenesBRF1, BTBD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700590
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010944


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