A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5671293



Internal ID21619598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52055237..52071310hg38UCSC Ensembl
chr6:51920035..51936108hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3816074
hg1916074
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17151125
Samples
Known GenesPKHD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5671293
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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