A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060540



Internal ID20627580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243256901..243282400hg38UCSC Ensembl
chr1:243420203..243445702hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3825500
hg1925500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329619
Supporting Variants
Samples
Known GenesSDCCAG8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060540
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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