A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18170550



Internal ID20737590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67637901..67641400hg38UCSC Ensembl
chr8:68550136..68553635hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6422398
Supporting Variants
Samples
Known GenesCPA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18170550
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00486


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