A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684259



Internal ID107925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107474736..107493938hg38UCSC Ensembl
chr12:107868513..107887715hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3819203
hg1919203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504800
Supporting Variants
Samples
Known GenesBTBD11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684259
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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