A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3489581



Internal ID18730536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152790274..152878797hg38UCSC Ensembl
Innerchr1:152762750..152851273hg19UCSC Ensembl
Innerchr1:151029374..151117897hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3888524
hg1988524
hg1888524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009885
Supporting Variants
Samples
Known GenesLCE1A, LCE1B, LCE1C, LCE1D, LCE6A, SMCP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3489581
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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