A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5576482



Internal ID21524921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40397763..40401105hg38UCSC Ensembl
chr6:40365502..40368844hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383343
hg193343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17149331
SamplesHG00732
Known GenesLRFN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5576482
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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