A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6103947



Internal ID22013180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45166718..45166718hg38UCSC Ensembl
chr22:45562599..45562599hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17637820
Samples
Known GenesNUP50
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6103947
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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