A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5630501



Internal ID21578806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41803080..41803080hg38UCSC Ensembl
chr8:41660598..41660598hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17146075
SamplesHG03683
Known GenesANK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5630501
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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