A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058449



Internal ID20625489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220262116..220269569hg38UCSC Ensembl
chr1:220435458..220442911hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387454
hg197454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332928
Supporting Variants
Samples
Known GenesAURKAPS1, RAB3GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058449
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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