A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063290



Internal ID21459472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234308577..234308577hg38UCSC Ensembl
chr1:234444323..234444323hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619815
Supporting Variants
SamplesHG02818
Known GenesSLC35F3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063290
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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