A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28853



Internal ID15494415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47782007..47789732hg38UCSC Ensembl
Outerchr3:47781380..47791557hg38UCSC Ensembl
Innerchr3:47823497..47831222hg19UCSC Ensembl
Outerchr3:47822870..47833047hg19UCSC Ensembl
Innerchr3:47798501..47806226hg18UCSC Ensembl
Outerchr3:47797874..47808051hg18UCSC Ensembl
Innerchr3:47798501..47806226hg17UCSC Ensembl
Outerchr3:47797874..47808051hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3810178
hg1910178
hg1810178
hg1710178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10270
Supporting Variants
SamplesNA19007
Known GenesSMARCC1
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)nssv28853
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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