A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054525



Internal ID20621566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185779492..186257738hg38UCSC Ensembl
chr1:185748624..186226870hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38478247
hg19478247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333644
Supporting Variants
Samples
Known GenesHMCN1, MIR548F1, RNU6-72P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054525
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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