A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5628303



Internal ID21576608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7813100..7813100hg38UCSC Ensembl
chr6:7813333..7813333hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17140782
SamplesHG03125
Known GenesBMP6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5628303
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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