A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340873



Internal ID20998426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200378222..200379632hg38UCSC Ensembl
chr2:201242945..201244355hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208276
Samples
Known GenesSPATS2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340873
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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