A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1104n54



Internal ID20134528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44707573..44873696hg38UCSC Ensembl
chr10:45203021..45369144hg19UCSC Ensembl
chr10:44523027..44689150hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38166124
hg19166124
hg18166124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv550709, nsv550704, nsv550706, nsv550708, nsv550711, nsv550710, nsv550703, nsv550707, nsv550702, nsv550705
Samples1780862090_A, HGDP01253, HGDP01264, 1780862392_A, 1780854592_A, 1780862379_A, HGDP01368, HGDP01362, 1780854535_A, 1780854573_A, HGDP00520, NINDS_40
Known GenesTMEM72-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1104n54
Frequency
Sample Size17421
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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