A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057802



Internal ID20624842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214296739..214296788hg38UCSC Ensembl
chr1:214470082..214470131hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331472
Supporting Variants
Samples
Known GenesSMYD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057802
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00955


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