A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248569



Internal ID21312483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172128078..172163928hg38UCSC Ensembl
Outerchr2:172127288..172165686hg38UCSC Ensembl
Innerchr2:172992806..173028656hg19UCSC Ensembl
Outerchr2:172992016..173030414hg19UCSC Ensembl
Innerchr2:172701052..172736902hg18UCSC Ensembl
Outerchr2:172700262..172738660hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3838399
hg1938399
hg1838399
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169950
Supporting Variants
SamplesSNI_2
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248569
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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