A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201378



Internal ID20768418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46159381..46205659hg38UCSC Ensembl
chr1:46625053..46671331hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3846279
hg1946279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323355
Supporting Variants
Samples
Known GenesLURAP1, POMGNT1, TSPAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201378
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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