A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500441



Internal ID277375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110627387..110627980hg38UCSC Ensembl
chr12:111065192..111065785hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684438
Samples
Known GenesTCTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500441
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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