A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758547



Internal ID20534407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36948629..36948629hg38UCSC Ensembl
chr6:36916405..36916405hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286991
Samples
Known GenesPI16
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758547
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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