A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800123



Internal ID21245461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144825951..144825951hg38UCSC Ensembl
chr2:87590700..87590700hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13677833
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800123
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