A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1090589



Internal ID15943775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93908763..93913138hg38UCSC Ensembl
Innerchr7:93538075..93542450hg19UCSC Ensembl
Innerchr7:93376011..93380386hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg384376
hg194376
hg184376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607850
Supporting Variants
Samples
Known GenesGNGT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1090589
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