A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3944594



Internal ID21364663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44296934..44296934hg38UCSC Ensembl
chr6:44264671..44264671hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15202768
SamplesHG002
Known GenesTCTE1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3944594
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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