A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12403



Internal ID15486732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186788530..186791784hg38UCSC Ensembl
Outerchr3:186788090..186792250hg38UCSC Ensembl
Innerchr3:186506319..186509573hg19UCSC Ensembl
Outerchr3:186505879..186510039hg19UCSC Ensembl
Innerchr3:187989013..187992267hg18UCSC Ensembl
Outerchr3:187988573..187992733hg18UCSC Ensembl
Innerchr3:187989021..187992275hg17UCSC Ensembl
Outerchr3:187988581..187992741hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg384161
hg194161
hg184161
hg174161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10365
Supporting Variants
SamplesNA18504
Known GenesEIF4A2, RFC4
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)nssv12403
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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