A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563580



Internal ID16350989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18488452..19969990hg38UCSC Ensembl
Innerchr14:19264929..20438149hg19UCSC Ensembl
Innerchr14:18334929..19507989hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381481539
hg191173221
hg181173061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3489n54
Supporting Variantsnssv821244
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563580
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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