A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200525



Internal ID20767565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155286397..155298579hg38UCSC Ensembl
chr1:155256188..155268370hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3812183
hg1912183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333692
Supporting Variants
Samples
Known GenesHCN3, PKLR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200525
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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