A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562913



Internal ID335852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43356799..43356850hg38UCSC Ensembl
chr2:43583938..43583989hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911676
Samples
Known GenesTHADA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562913
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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