A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062492



Internal ID19151711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265409..25510525hg38UCSC Ensembl
Innerchr22:25661376..25906492hg19UCSC Ensembl
Innerchr22:23991376..24236492hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38245117
hg19245117
hg18245117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4547n100
Supporting Variantsnssv3588093, nssv3588094, nssv3588095
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062492
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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