A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002742



Internal ID19091959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143713731..143927875hg38UCSC Ensembl
Innerchr1:149208380..149422447hg19UCSC Ensembl
Innerchr1:147475004..147689071hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38214145
hg19214068
hg18214068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv404n100
Supporting Variantsnssv3484788
Samples
Known GenesFCGR1C, LOC388692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002742
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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