A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199243



Internal ID20766283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109385158..109480590hg38UCSC Ensembl
chr1:109927780..110023212hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3895433
hg1995433
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317996
Supporting Variants
Samples
Known GenesPSMA5, SORT1, SYPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199243
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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