A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1090588



Internal ID15597088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93863421..94066361hg38UCSC Ensembl
Innerchr7:93492733..93695673hg19UCSC Ensembl
Innerchr7:93330669..93533609hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38202941
hg19202941
hg18202941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607849
Supporting Variants
Samples
Known GenesBET1, GNG11, GNGT1, TFPI2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1090588
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