A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049354



Internal ID19138573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18605720..19256386hg38UCSC Ensembl
Innerchr14:19382197..19844095hg19UCSC Ensembl
Innerchr14:18452197..18914095hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38650667
hg19461899
hg18461899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1758n100
Supporting Variantsnssv3526970
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049354
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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