A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047612



Internal ID19136831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19032352..19956767hg38UCSC Ensembl
Innerchr14:19620039..20424926hg19UCSC Ensembl
Innerchr14:18690039..19494766hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38924416
hg19804888
hg18804728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3529691, nssv3529690
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)nsv1047612
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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