A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2670n71



Internal ID6320290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30877544..31247924hg19UCSC Ensembl
chr16:30785045..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 Variantsnsv905734, nsv905735
SamplesIS37646, SP54956
Known GenesBCKDK, BCL7C, CTF1, FBXL19, FBXL19-AS1, FUS, HSD3B7, KAT8, MIR4519, MIR762, ORAI3, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, SETD1A, STX1B, STX4, TRIM72, VKORC1, ZNF646, ZNF668
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv2670n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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