A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608065



Internal ID16048788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:104177149..104350307hg38UCSC Ensembl
Innerchr7:103817597..103990755hg19UCSC Ensembl
Innerchr7:103604833..103777991hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38173159
hg19173159
hg18173159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092074
Samples
Known GenesLHFPL3, ORC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608065
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