A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2672n71



Internal ID6320292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31066249..31247924hg19UCSC Ensembl
chr16:30973750..31155425hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv905740, nsv905742, nsv905741
SamplesIS32322, IS32841, IS33504, IS39233, IS30369, MS10769
Known GenesBCKDK, FUS, KAT8, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, TRIM72, VKORC1, ZNF646, ZNF668
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv2672n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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