A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040107



Internal ID19129326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18685994..19955201hg38UCSC Ensembl
Innerchr14:19462471..20423360hg19UCSC Ensembl
Innerchr14:18532471..19493200hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381269208
hg19960890
hg18960730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3528146, nssv3528144, nssv3714239, nssv3528145, nssv3714240, nssv3528142, nssv3714241, nssv3528143
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040107
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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