A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608054



Internal ID16048777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102616209..102719268hg38UCSC Ensembl
Innerchr7:102256656..102359715hg19UCSC Ensembl
Innerchr7:102043876..102146951hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38103060
hg19103060
hg18103076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092064
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608054
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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