A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974669



Internal ID22749604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42864891..42864891hg38UCSC Ensembl
chr15:43157089..43157089hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384632
Samples
Known GenesTTBK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974669
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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