A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4761356



Internal ID20537216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139984629..139984629hg38UCSC Ensembl
chr7:139684428..139684428hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263182
Samples
Known GenesTBXAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4761356
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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