A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18056363



Internal ID20623404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197038901..197040400hg38UCSC Ensembl
chr1:197008031..197009530hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328197
Supporting Variants
Samples
Known GenesF13B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18056363
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00034


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