A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28056



Internal ID15497916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13112453..13113312hg38UCSC Ensembl
Outerchr1:13111025..13114867hg38UCSC Ensembl
Innerchr1:13179925..13180784hg19UCSC Ensembl
Outerchr1:13178497..13182339hg19UCSC Ensembl
Innerchr1:13102512..13103371hg18UCSC Ensembl
Outerchr1:13101084..13104926hg18UCSC Ensembl
Innerchr1:13003908..13004767hg17UCSC Ensembl
Outerchr1:13002480..13006322hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383843
hg193843
hg183843
hg173843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19240
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)nssv28056
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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