A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12758



Internal ID15483881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16940163..16942423hg38UCSC Ensembl
Outerchr1:16939287..16943886hg38UCSC Ensembl
Innerchr1:17266658..17268918hg19UCSC Ensembl
Outerchr1:17265782..17270381hg19UCSC Ensembl
Innerchr1:17139245..17141505hg18UCSC Ensembl
Outerchr1:17138369..17142968hg18UCSC Ensembl
Innerchr1:17011964..17014224hg17UCSC Ensembl
Outerchr1:17011088..17015687hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384600
hg194600
hg184600
hg174600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA12155
Known GenesCROCC
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)nssv12758
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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