A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965020



Internal ID22739955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130389444..130389444hg38UCSC Ensembl
chr6:130710589..130710589hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17420320
Samples
Known GenesTMEM200A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965020
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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