A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049221



Internal ID18791752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16246571..16704794hg38UCSC Ensembl
Innerchr16:16340428..16798651hg19UCSC Ensembl
Innerchr16:16247929..16706152hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38458224
hg19458224
hg18458224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2775n100
Supporting Variantsnssv3558023
Samples
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049221
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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