A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5643308



Internal ID21591613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136240919..136240919hg38UCSC Ensembl
chr6:136562057..136562057hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17152765
SamplesNA19238
Known GenesMTFR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5643308
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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