A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9431



Internal ID15500657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30179216..30218525hg38UCSC Ensembl
Outerchr16:30190537..30229846hg19UCSC Ensembl
Outerchr16:30098038..30137347hg18UCSC Ensembl
Outerchr16:30098038..30137347hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3839310
hg1939310
hg1839310
hg1739310
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26102, nssv22563, nssv26203, nssv25346, nssv23032, nssv20891, nssv23488, nssv22314, nssv26491, nssv26805
SamplesNA18502, NA18504, NA18860, NA07048, NA10839, NA18975, NA12872, NA18517, NA12740, NA18972
Known GenesBOLA2, BOLA2B, CORO1A, LOC388242, LOC606724, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9431
Frequency
Sample Size31
Observed Gain8
Observed Loss2
Observed Complex0
Frequencyn/a


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