A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242426



Internal ID21310949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21461577..21479959hg38UCSC Ensembl
Outerchr22:21454896..21486145hg38UCSC Ensembl
Innerchr22:21815866..21834248hg19UCSC Ensembl
Outerchr22:21809185..21840434hg19UCSC Ensembl
Innerchr22:20145866..20164248hg18UCSC Ensembl
Outerchr22:20139185..20170434hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3831250
hg1931250
hg1831250
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170294
Supporting Variants
SamplesPML_2
Known GenesPI4KAP2, TMEM191C
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242426
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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