A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13684956



Internal ID21206816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233176556..233176556hg38UCSC Ensembl
chr2:234085202..234085202hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2805986
Supporting Variants
Samples
Known GenesINPP5D
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13684956
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