A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614596



Internal ID21562901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216050564..216050564hg38UCSC Ensembl
chr1:216223906..216223906hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062693
SamplesHG00731
Known GenesUSH2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614596
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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