A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606749



Internal ID21555054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79001176..79001176hg38UCSC Ensembl
chr1:79466861..79466861hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066124
SamplesHG02818
Known GenesELTD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606749
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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