A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523149



Internal ID20896510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2655101..2657600hg38UCSC Ensembl
chr18:2655100..2657599hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182118
Samples
Known GenesCBX3P2, SMCHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523149
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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