A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123390



Internal ID21478801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2180211..2180211hg38UCSC Ensembl
chr5:2180325..2180325hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5625448
Supporting Variants
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123390
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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