A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408007



Internal ID22465877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69828884..69828884hg38UCSC Ensembl
chr18:67496120..67496120hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979974
Supporting Variants
Samples
Known GenesDOK6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408007
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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