A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5571244



Internal ID21519620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51874764..51880801hg38UCSC Ensembl
chr6:51739562..51745599hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386038
hg196038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17147784
SamplesHG00512
Known GenesPKHD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5571244
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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