A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056265



Internal ID19145484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35213503..35522700hg38UCSC Ensembl
Innerchr16:34447874..34757071hg19UCSC Ensembl
Innerchr16:34305375..34614572hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38309198
hg19309198
hg18309198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3556019, nssv3556020, nssv3722216
Samples
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056265
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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