A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947628



Internal ID21367697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36863613..36863613hg38UCSC Ensembl
chr22:37259655..37259655hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg383145
hg193145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187416
SamplesHG002
Known GenesNCF4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947628
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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