A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18056371



Internal ID20623412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197076267..197076741hg38UCSC Ensembl
chr1:197045397..197045871hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332876
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18056371
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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