A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430988



Internal ID21088541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18070377..18105466hg38UCSC Ensembl
chr8:17927886..17962975hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3835090
hg1935090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18166366
Samples
Known GenesASAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430988
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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