A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042569



Internal ID18785100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18545386..18757371hg38UCSC Ensembl
Innerchr16:18556708..18768693hg19UCSC Ensembl
Innerchr16:18464209..18676194hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38211986
hg19211986
hg18211986
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2786n100
Supporting Variantsnssv3542752, nssv3542753, nssv3716930, nssv3716932, nssv3542748, nssv3716931, nssv3542750, nssv3542749, nssv3542751, nssv3542747
Samples
Known GenesABCC6P1, NOMO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042569
Frequency
Sample Size29084
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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