A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414802



Internal ID194069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11041601..11042363hg38UCSC Ensembl
chr1:11101658..11102420hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892505
Samples
Known GenesMASP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414802
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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