A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622012



Internal ID21570317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41993849..41993849hg38UCSC Ensembl
chr1:42459520..42459520hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065774
SamplesHG00171
Known GenesHIVEP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622012
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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