A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052552



Internal ID19141771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19954424hg38UCSC Ensembl
Innerchr14:19801743..20422583hg19UCSC Ensembl
Innerchr14:18871743..19492423hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38723476
hg19620841
hg18620681
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1770n100
Supporting Variantsnssv3527285, nssv3527283, nssv3527286, nssv3527282, nssv3711130, nssv3527284, nssv3527287
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052552
Frequency
Sample Size11257
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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