A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917597



Internal ID22692816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139955755..139955859hg38UCSC Ensembl
chr7:139655554..139655658hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435036
Samples
Known GenesTBXAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917597
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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