A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18050478



Internal ID20617518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10215469..10220872hg38UCSC Ensembl
chr1:10275527..10280930hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385404
hg195404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322212
Supporting Variants
Samples
Known GenesKIF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18050478
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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