A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801424



Internal ID21246762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235412157..235412157hg38UCSC Ensembl
chr1:235575472..235575472hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13695211, nssv13683747
Samples
Known GenesTBCE
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801424
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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