A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338031



Internal ID20995584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222424612..222429543hg38UCSC Ensembl
chr2:223289331..223294262hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg384932
hg194932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206257
Samples
Known GenesSGPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338031
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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