A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062145



Internal ID19151364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21452112..21490993hg38UCSC Ensembl
Innerchr22:21806401..21845282hg19UCSC Ensembl
Innerchr22:20136401..20175282hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3838882
hg1938882
hg1838882
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4490n100
Supporting Variantsnssv3731934, nssv3588804, nssv3588805, nssv3588806
Samples
Known GenesPI4KAP2, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062145
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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