A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18062



Internal ID15827534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119991513..120067464hg38UCSC Ensembl
Outerchr1:119988597..120067929hg38UCSC Ensembl
Innerchr1:120534136..120610078hg19UCSC Ensembl
Outerchr1:120531220..120610543hg19UCSC Ensembl
Innerchr1:120335659..120411601hg18UCSC Ensembl
Outerchr1:120332743..120412066hg18UCSC Ensembl
Innerchr1:120246178..120322120hg17UCSC Ensembl
Outerchr1:120243262..120322585hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3879333
hg1979324
hg1879324
hg1779324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10683
Supporting Variants
SamplesNA07029
Known GenesNOTCH2
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)nssv18062
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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