A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053049



Internal ID19142268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19755844hg38UCSC Ensembl
Innerchr14:19801743..20224003hg19UCSC Ensembl
Innerchr14:18871743..19293843hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38524896
hg19422261
hg18422101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1767n100
Supporting Variantsnssv3527275
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, 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)nsv1053049
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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