A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052478



Internal ID20619518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160953827..160957056hg38UCSC Ensembl
chr1:160923617..160926846hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383230
hg193230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318944
Supporting Variants
Samples
Known GenesITLN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052478
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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