A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039247



Internal ID18781778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16236621..16622224hg38UCSC Ensembl
Innerchr16:16330478..16716081hg19UCSC Ensembl
Innerchr16:16237979..16623582hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38385604
hg19385604
hg18385604
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2776n100
Supporting Variantsnssv3558016, nssv3718988, nssv3558015, nssv3558014
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)nsv1039247
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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