A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048969



Internal ID18791500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16201938..16704794hg38UCSC Ensembl
Innerchr16:16295795..16798651hg19UCSC Ensembl
Innerchr16:16203296..16706152hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38502857
hg19502857
hg18502857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2775n100
Supporting Variantsnssv3558007, nssv3558004, nssv3558006, nssv3558005, nssv3558008
Samples
Known GenesABCC6, LOC100288162, 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)nsv1048969
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer