A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11520



Internal ID15843541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95758846..95806903hg38UCSC Ensembl
Outerchr2:95705729..95807096hg38UCSC Ensembl
Innerchr2:96424594..96472651hg19UCSC Ensembl
Outerchr2:96371477..96472844hg19UCSC Ensembl
Innerchr2:95788321..95836378hg18UCSC Ensembl
Outerchr2:95735204..95836571hg18UCSC Ensembl
Innerchr2:95846468..95894525hg17UCSC Ensembl
Outerchr2:95793351..95894718hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38101368
hg19101368
hg18101368
hg17101368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10092
Supporting Variants
SamplesNA19221
Known GenesLINC00342
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)nssv11520
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