A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv905729



Internal ID6267656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30666367..31232437hg19UCSC Ensembl
Outerchr16:30642867..31247924hg19UCSC Ensembl
Innerchr16:30573868..31139938hg18UCSC Ensembl
Outerchr16:30550368..31155425hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1530835
SamplesMS10311
Known GenesBCKDK, BCL7C, C16orf93, CTF1, FBRS, FBXL19, FBXL19-AS1, FUS, HSD3B7, KAT8, MIR4519, MIR762, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, SETD1A, SNORA30, SRCAP, STX1B, STX4, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv905729
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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