A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3488420



Internal ID18729375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214590435..214840032hg38UCSC Ensembl
Innerchr1:214763778..215013375hg19UCSC Ensembl
Innerchr1:212830401..213079998hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38249598
hg19249598
hg18249598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004475
Supporting Variants
Samples
Known GenesCENPF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3488420
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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