A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6417547



Internal ID21075100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58495201..58496400hg38UCSC Ensembl
chr8:59407760..59408959hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18169974
Samples
Known GenesCYP7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6417547
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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