A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28799



Internal ID15480534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47782007..47782156hg38UCSC Ensembl
Outerchr3:47781380..47782356hg38UCSC Ensembl
Innerchr3:47823497..47823646hg19UCSC Ensembl
Outerchr3:47822870..47823846hg19UCSC Ensembl
Innerchr3:47798501..47798650hg18UCSC Ensembl
Outerchr3:47797874..47798850hg18UCSC Ensembl
Innerchr3:47798501..47798650hg17UCSC Ensembl
Outerchr3:47797874..47798850hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38977
hg19977
hg18977
hg17977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10270
Supporting Variants
SamplesNA07029
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)nssv28799
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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