A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6381293



Internal ID21038846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47375401..47382000hg38UCSC Ensembl
chr4:47377418..47384017hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214310
Samples
Known GenesGABRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6381293
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer