A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28539



Internal ID15484960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13076916..13103100hg38UCSC Ensembl
Outerchr1:13076085..13104355hg38UCSC Ensembl
Innerchr1:13144364..13170568hg19UCSC Ensembl
Outerchr1:13143534..13171823hg19UCSC Ensembl
Innerchr1:13066951..13093155hg18UCSC Ensembl
Outerchr1:13066121..13094410hg18UCSC Ensembl
Innerchr1:12968347..12994551hg17UCSC Ensembl
Outerchr1:12967517..12995806hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3828271
hg1928290
hg1828290
hg1728290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA12802
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)nssv28539
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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