A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200953



Internal ID20767993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158627126..158642624hg38UCSC Ensembl
chr1:158596916..158612414hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3815499
hg1915499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334238
Supporting Variants
Samples
Known GenesSPTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200953
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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