A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23060



Internal ID15828703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116619778..116660929hg38UCSC Ensembl
Outerchr1:116619244..116661528hg38UCSC Ensembl
Innerchr1:117162400..117203551hg19UCSC Ensembl
Outerchr1:117161866..117204150hg19UCSC Ensembl
Innerchr1:116963923..117005074hg18UCSC Ensembl
Outerchr1:116963389..117005673hg18UCSC Ensembl
Innerchr1:116874442..116915593hg17UCSC Ensembl
Outerchr1:116873908..116916192hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3842285
hg1942285
hg1842285
hg1742285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10661
Supporting Variants
SamplesNA10839
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)nssv23060
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer