A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053721



Internal ID20620761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176144950..176145505hg38UCSC Ensembl
chr1:176114086..176114641hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321039
Supporting Variants
Samples
Known GenesRFWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053721
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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