A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046723



Internal ID19135942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19014957..19957752hg38UCSC Ensembl
Innerchr14:19602662..20425911hg19UCSC Ensembl
Innerchr14:18672662..19495751hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38942796
hg19823250
hg18823090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3529656, nssv3529655
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)nsv1046723
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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