A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618972



Internal ID21567277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181023028..181023028hg38UCSC Ensembl
chr1:180992164..180992164hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061808
SamplesHG03125
Known GenesSTX6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618972
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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