A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502493



Internal ID18800774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186202242..186234676hg38UCSC Ensembl
Innerchr1:186171374..186203808hg19UCSC Ensembl
Innerchr1:184437997..184470431hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3832435
hg1932435
hg1832435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009057
Supporting Variants
Samples
Known GenesMIR548F1, RNU6-72P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3502493
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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