A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29166



Internal ID15484549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47782007..47782506hg38UCSC Ensembl
Outerchr3:47781380..47783151hg38UCSC Ensembl
Innerchr3:47823497..47823996hg19UCSC Ensembl
Outerchr3:47822870..47824641hg19UCSC Ensembl
Innerchr3:47798501..47799000hg18UCSC Ensembl
Outerchr3:47797874..47799645hg18UCSC Ensembl
Innerchr3:47798501..47799000hg17UCSC Ensembl
Outerchr3:47797874..47799645hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381772
hg191772
hg181772
hg171772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10270
Supporting Variants
SamplesNA12740
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)nssv29166
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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