A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014390



Internal ID19103609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148774675..148879739hg38UCSC Ensembl
Innerchr1:145004743..145113854hg19UCSC Ensembl
Innerchr1:143716100..143825211hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38105065
hg19109112
hg18109112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv326n100
Supporting Variantsnssv3497633
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP, SEC22B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014390
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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