A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18222243



Internal ID20789283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26212101..26213300hg38UCSC Ensembl
chr7:26251721..26252920hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6610593
Supporting Variants
Samples
Known GenesCBX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18222243
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.55812


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