A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058511



Internal ID19147730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29934458..29965892hg38UCSC Ensembl
Innerchr22:30330447..30361881hg19UCSC Ensembl
Innerchr22:28660447..28691881hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3831435
hg1931435
hg1831435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600804, nssv3734196, nssv3600797, nssv3734195, nssv3600803, nssv3600798, nssv3600799, nssv3600801, nssv3600802, nssv3600800
Samples
Known GenesMTMR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058511
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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