A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5630918



Internal ID21579223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71200158..71200158hg38UCSC Ensembl
chr8:72112393..72112393hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17141977
SamplesHG03371
Known GenesEYA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5630918
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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