A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754983



Internal ID20530843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2694497..2694497hg38UCSC Ensembl
chr6:2694731..2694731hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287020
Samples
Known GenesMYLK4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754983
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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