A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3492963



Internal ID19080604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143982530..145290292hg19UCSC Ensembl
Innerchr1:142693888..144001649hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg191307763
hg181307762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012742
Supporting Variants
Samples
Known GenesLINC00623, LOC100288142, LOC101929780, LOC653513, LOC728875, NBPF12, NBPF8, NBPF9, NOTCH2NL, PDE4DIP, PFN1P2, PPIAL4A, PPIAL4B, PPIAL4C, SEC22B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3492963
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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