A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801010



Internal ID21246349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145147162..145147333hg38UCSC Ensembl
chr2:142788903..142789074hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13678556
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801010
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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