A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2815917



Internal ID21261255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139950893..139950893hg38UCSC Ensembl
chr7:139650692..139650692hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13711649
Samples
Known GenesTBXAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2815917
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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