A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8071n54



Internal ID20141495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25227356..25554783hg38UCSC Ensembl
chr22:25623323..25950750hg19UCSC Ensembl
chr22:23953323..24280750hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38327428
hg19327428
hg18327428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588791, nsv588772, nsv588784, nsv588807, nsv588757, nsv588761, nsv588759, nsv588766, nsv588779, nsv588824, nsv588810, nsv588785, nsv588773, nsv588786, nsv588794, nsv588793, nsv588760, nsv588821, nsv588822, nsv588820, nsv588778, nsv588765, nsv588781, nsv588792, nsv588802, nsv588780, nsv588770, nsv588758, nsv588816, nsv588764, nsv588818, nsv588768
SamplesHGDP00815, HGDP00880, NINDS_203, HGDP00234, HGDP00423, HGDP00216, HGDP01245, NINDS_209, HGDP01290, HGDP00330, 1798860592_A, 1780862160_A, HGDP01387, 1787431167_A, 1780854467_A, 1780862356_A, HGDP00580, NINDS_225, HGDP00801, NINDS_210, HGDP01334, HGDP00938, HGDP00015, 1780854123_A, HGDP01239, 1780854198_A, 1782681169_A, HGDP00804, HGDP00264, HGDP01356, HGDP00974
Known GenesCRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8071n54
Frequency
Sample Size17421
Observed Gain57
Observed Loss0
Observed Complex0
Frequencyn/a


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