A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557807



Internal ID330893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191843726..191843777hg38UCSC Ensembl
chr2:192708452..192708503hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg382156
hg192156
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922045
Samples
Known GenesSDPR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557807
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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