A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123477



Internal ID21486452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30716893..30716893hg38UCSC Ensembl
chr4:30718515..30718515hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5614564
Supporting Variants
SamplesNA12878
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123477
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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