A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869330



Internal ID22644265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225470054..225499223hg38UCSC Ensembl
chr1:225657756..225686925hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3829170
hg1929170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368205
Samples
Known GenesENAH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869330
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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