A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6575180



Internal ID20948251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47775129..47775906hg38UCSC Ensembl
chr8:48687690..48688467hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18278112
Samples
Known GenesPRKDC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6575180
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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