A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416007



Internal ID195251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42864905..42864956hg38UCSC Ensembl
chr15:43157103..43157154hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701982
Samples
Known GenesTTBK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416007
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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