A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5574445



Internal ID21522860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51652551..51652876hg38UCSC Ensembl
chr6:51517349..51517674hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17149942
SamplesHG00731
Known GenesPKHD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5574445
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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