A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5633549



Internal ID21581854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2730831..2730831hg38UCSC Ensembl
chr6:2731065..2731065hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17143973
SamplesHG02492
Known GenesMYLK4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5633549
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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