A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005319



Internal ID19094536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117048003..117167959hg38UCSC Ensembl
Innerchr2:117805579..117925535hg19UCSC Ensembl
Innerchr2:117522049..117642005hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38119957
hg19119957
hg18119957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4057n100
Supporting Variantsnssv3580674, nssv3580675
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)nsv1005319
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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