A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009988



Internal ID19099207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152777780..152801429hg38UCSC Ensembl
Innerchr1:152750256..152773905hg19UCSC Ensembl
Innerchr1:151016880..151040529hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3823650
hg1923650
hg1823650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv429n100
Supporting Variantsnssv3501936, nssv3492754
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)nsv1009988
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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