A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500178



Internal ID277119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42763713..42768694hg38UCSC Ensembl
chr15:43055911..43060892hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg384982
hg194982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699802
Samples
Known GenesTTBK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500178
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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