A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054472



Internal ID20621512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185266316..185269104hg38UCSC Ensembl
chr1:185235448..185238236hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382789
hg192789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333971
Supporting Variants
Samples
Known GenesSWT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054472
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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