A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048212



Internal ID21957445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40940168..40940168hg38UCSC Ensembl
chr1:41405840..41405840hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382382
hg192382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519695
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048212
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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