A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045473



Internal ID19134692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12531870..12543125hg38UCSC Ensembl
Innerchr16:12625727..12636982hg19UCSC Ensembl
Innerchr16:12533228..12544483hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3811256
hg1911256
hg1811256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2730n100
Supporting Variantsnssv3557149
Samples
Known GenesSNX29
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045473
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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