A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407



Internal ID15830273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120962622..120964542hg38UCSC Ensembl
Outerchr1:120961940..120964542hg38UCSC Ensembl
Innerchr1:144469546..144471589hg19UCSC Ensembl
Outerchr1:144469390..144472274hg19UCSC Ensembl
Innerchr1:143180903..143182946hg18UCSC Ensembl
Outerchr1:143180747..143183631hg18UCSC Ensembl
Innerchr1:142046901..142048944hg17UCSC Ensembl
Outerchr1:142046745..142049629hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382603
hg192885
hg182885
hg172885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8014
Supporting Variants
SamplesNA11830
Known GenesLOC100288142
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)nssv17407
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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