A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060070



Internal ID20627110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38919825..38920419hg38UCSC Ensembl
chr1:39385497..39386091hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328123
Supporting Variants
Samples
Known GenesRHBDL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060070
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00014


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