A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5643562



Internal ID21591867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2694524..2694524hg38UCSC Ensembl
chr6:2694758..2694758hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38737
hg19737
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17142973, nssv17152996
SamplesHG00512, HG00731
Known GenesMYLK4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5643562
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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