A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053448



Internal ID20620488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158679157..158679772hg38UCSC Ensembl
chr1:158648947..158649562hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316052
Supporting Variants
Samples
Known GenesSPTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053448
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0004


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