A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052930



Internal ID18795461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6814336..6864357hg38UCSC Ensembl
Innerchr16:6864337..6914358hg19UCSC Ensembl
Innerchr16:6804338..6854359hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3850022
hg1950022
hg1850022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2710n100
Supporting Variantsnssv3557057
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052930
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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