A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048651



Internal ID18791182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19014957hg38UCSC Ensembl
Innerchr14:19002112..19602662hg19UCSC Ensembl
Innerchr14:18072112..18672662hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38789323
hg19600551
hg18600551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1749n100
Supporting Variantsnssv3526805, nssv3525697, nssv3713334
Samples
Known GenesLOC642426, OR11H12, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048651
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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