A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18055555



Internal ID20622595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193077134..193077584hg38UCSC Ensembl
chr1:193046264..193046714hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318288
Supporting Variants
Samples
Known GenesTROVE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18055555
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00131


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