A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200465



Internal ID20767505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153096385..153115461hg38UCSC Ensembl
chr1:153068861..153087937hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3819077
hg1919077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6324281
Supporting Variants
Samples
Known GenesSPRR2F
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200465
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00059


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