A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2806445



Internal ID21251783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238870320..238870320hg38UCSC Ensembl
chr2:239778961..239778961hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38552
hg19552
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13685066
Samples
Known GenesTWIST2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2806445
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