A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801247



Internal ID21246587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5112426..5112426hg38UCSC Ensembl
chr1:5172486..5172486hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13695379
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801247
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