A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17073



Internal ID15828123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116619778..116660223hg38UCSC Ensembl
Outerchr1:116619244..116660929hg38UCSC Ensembl
Innerchr1:117162400..117202845hg19UCSC Ensembl
Outerchr1:117161866..117203551hg19UCSC Ensembl
Innerchr1:116963923..117004368hg18UCSC Ensembl
Outerchr1:116963389..117005074hg18UCSC Ensembl
Innerchr1:116874442..116914887hg17UCSC Ensembl
Outerchr1:116873908..116915593hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3841686
hg1941686
hg1841686
hg1741686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10661
Supporting Variants
SamplesNA07048
Known GenesIGSF3
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)nssv17073
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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