A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371468



Internal ID22597137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48929566..48929566hg38UCSC Ensembl
chr18:46455936..46455936hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969649
Supporting Variants
Samples
Known GenesSMAD7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371468
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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