A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147398



Internal ID18855171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:5939768..5945469hg38UCSC Ensembl
Outerchr7:5979399..5985100hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg385702
hg195702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000170
SamplesKWB1
Known GenesRSPH10B, RSPH10B2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147398
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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