A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014190



Internal ID19103410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152774650..152806385hg38UCSC Ensembl
Innerchr1:152747126..152778861hg19UCSC Ensembl
Innerchr1:151013750..151045485hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3831736
hg1931736
hg1831736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv429n100
Supporting Variantsnssv3497427
Samples
Known GenesLCE1C, LCE1D, LCE1E, LCE1F
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014190
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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