A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26876



Internal ID15481309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1192586..1197935hg38UCSC Ensembl
Outerchr1:1185662..1198737hg38UCSC Ensembl
Innerchr1:1127966..1133315hg19UCSC Ensembl
Outerchr1:1121042..1134117hg19UCSC Ensembl
Innerchr1:1117829..1123178hg18UCSC Ensembl
Outerchr1:1110905..1123980hg18UCSC Ensembl
Innerchr1:1167889..1173238hg17UCSC Ensembl
Outerchr1:1160965..1174040hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3813076
hg1913076
hg1813076
hg1713076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA07048
Known GenesTTLL10
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)nssv26876
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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