A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055504



Internal ID19144723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31960187..32169643hg38UCSC Ensembl
Innerchr16:31971508..32180964hg19UCSC Ensembl
Innerchr16:31879009..32088465hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38209457
hg19209457
hg18209457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2834n100
Supporting Variantsnssv3549165, nssv3549167, nssv3549168, nssv3549166
Samples
Known GenesHERC2P4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055504
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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