A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv718458



Internal ID15665728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85200691..85201505hg38UCSC Ensembl
Innerchr1:85666374..85667188hg19UCSC Ensembl
Innerchr1:85438962..85439776hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38815
hg19815
hg18815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546710
Supporting Variants
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv718458
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