A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29002



Internal ID15840630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140549088..140550875hg38UCSC Ensembl
Outerchr3:140548180..140551642hg38UCSC Ensembl
Innerchr3:140267930..140269717hg19UCSC Ensembl
Outerchr3:140267022..140270484hg19UCSC Ensembl
Innerchr3:141750620..141752407hg18UCSC Ensembl
Outerchr3:141749712..141753174hg18UCSC Ensembl
Innerchr3:141750628..141752415hg17UCSC Ensembl
Outerchr3:141749720..141753182hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg383463
hg193463
hg183463
hg173463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10331
Supporting Variants
SamplesNA18980
Known GenesCLSTN2
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)nssv29002
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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