A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18167534



Internal ID20734574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50386301..50389600hg38UCSC Ensembl
chr8:51298861..51302160hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432081
Supporting Variants
Samples
Known GenesSNTG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18167534
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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