A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752085



Internal ID20527945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50217064..50217064hg38UCSC Ensembl
chr1:50682736..50682736hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg386158
hg196158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16290944
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752085
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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