A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18166969



Internal ID20734009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42540801..42542000hg38UCSC Ensembl
chr8:42395944..42397143hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6425424
Supporting Variants
Samples
Known GenesSLC20A2, SMIM19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18166969
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.08364


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