A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18166303



Internal ID20733343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17324933..17327463hg38UCSC Ensembl
chr8:17182442..17184972hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382531
hg192531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6416694
Supporting Variants
Samples
Known GenesMTMR7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18166303
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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