A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619815



Internal ID21568120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234308577..234308577hg38UCSC Ensembl
chr1:234444323..234444323hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063291, nssv17063290
SamplesHG00731, HG02818
Known GenesSLC35F3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619815
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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