A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712935



Internal ID16006891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47416856..47417347hg38UCSC Ensembl
Innerchr1:47882528..47883019hg19UCSC Ensembl
Innerchr1:47655115..47655606hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38492
hg19492
hg18492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546178
Supporting Variants
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712935
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