A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608055



Internal ID16048778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102637142..102717690hg38UCSC Ensembl
Innerchr7:102277589..102358137hg19UCSC Ensembl
Innerchr7:102064827..102145373hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3880549
hg1980549
hg1880547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092065
Samples
Known GenesPOLR2J2, POLR2J3, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608055
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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