A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042377



Internal ID19131596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18661498..19791792hg38UCSC Ensembl
Innerchr14:19437975..20259951hg19UCSC Ensembl
Innerchr14:18507975..19329791hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381130295
hg19821977
hg18821817
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1761n100
Supporting Variantsnssv3528001, nssv3528002, nssv3528000
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4M1, 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)nsv1042377
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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