A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001398



Internal ID19090615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117017795..117176362hg38UCSC Ensembl
Innerchr2:117775371..117933938hg19UCSC Ensembl
Innerchr2:117491841..117650408hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38158568
hg19158568
hg18158568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4057n100
Supporting Variantsnssv3580282, nssv3580281
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001398
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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