A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486494



Internal ID18727449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:146036817..148934526hg38UCSC Ensembl
Innerchr1:144949963..145398179hg19UCSC Ensembl
Innerchr1:143661320..144109536hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382897710
hg19448217
hg18448217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003688
Supporting Variants
Samples
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL, 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)nssv3486494
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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