A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561165



Internal ID334151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43244668..43244719hg38UCSC Ensembl
chr2:43471807..43471858hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911662
Samples
Known GenesTHADA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561165
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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