A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26491



Internal ID15486361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30180759..30218380hg38UCSC Ensembl
Outerchr16:30179216..30218525hg38UCSC Ensembl
Innerchr16:30192080..30229701hg19UCSC Ensembl
Outerchr16:30190537..30229846hg19UCSC Ensembl
Innerchr16:30099581..30137202hg18UCSC Ensembl
Outerchr16:30098038..30137347hg18UCSC Ensembl
Innerchr16:30099581..30137202hg17UCSC Ensembl
Outerchr16:30098038..30137347hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3839310
hg1939310
hg1839310
hg1739310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9431
Supporting Variants
SamplesNA18502
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)nssv26491
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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