A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18051660



Internal ID20618700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114735280..114735903hg38UCSC Ensembl
chr1:115277901..115278524hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330543
Supporting Variants
Samples
Known GenesCSDE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18051660
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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