A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502185



Internal ID18800466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152778182..152801429hg38UCSC Ensembl
Innerchr1:152750658..152773905hg19UCSC Ensembl
Innerchr1:151017282..151040529hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3823248
hg1923248
hg1823248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010924
Supporting Variants
Samples
Known GenesLCE1D, LCE1E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3502185
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer