A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056560



Internal ID19145779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265409..25514539hg38UCSC Ensembl
Innerchr22:25661376..25910506hg19UCSC Ensembl
Innerchr22:23991376..24240506hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38249131
hg19249131
hg18249131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4547n100
Supporting Variantsnssv3588097, nssv3588098
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)nsv1056560
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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