A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29255



Internal ID15483780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16721849..16722907hg38UCSC Ensembl
Outerchr1:16720720..16723264hg38UCSC Ensembl
Innerchr1:17048344..17049402hg19UCSC Ensembl
Outerchr1:17047215..17049759hg19UCSC Ensembl
Innerchr1:16920931..16921989hg18UCSC Ensembl
Outerchr1:16919802..16922346hg18UCSC Ensembl
Innerchr1:16793650..16794708hg17UCSC Ensembl
Outerchr1:16792521..16795065hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382545
hg192545
hg182545
hg172545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA12155
Known Genes
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)nssv29255
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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