A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13683238



Internal ID21205097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10399446..10399446hg38UCSC Ensembl
chr2:10539572..10539572hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2805282
Supporting Variants
Samples
Known GenesHPCAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13683238
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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