A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28038



Internal ID15486987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1232735..1233612hg38UCSC Ensembl
Outerchr1:1231961..1235380hg38UCSC Ensembl
Innerchr1:1168115..1168992hg19UCSC Ensembl
Outerchr1:1167341..1170760hg19UCSC Ensembl
Innerchr1:1157978..1158855hg18UCSC Ensembl
Outerchr1:1157204..1160623hg18UCSC Ensembl
Innerchr1:1208038..1208915hg17UCSC Ensembl
Outerchr1:1207264..1210683hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383420
hg193420
hg183420
hg173420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA18504
Known GenesB3GALT6, SDF4
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)nssv28038
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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