A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18222541



Internal ID20789581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50807801..50860200hg38UCSC Ensembl
chr6:50775514..50827913hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3852400
hg1952400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407111
Supporting Variants
Samples
Known GenesTFAP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18222541
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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