A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17746



Internal ID15835274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143888659..143893407hg38UCSC Ensembl
Outerchr1:143888261..143894172hg38UCSC Ensembl
Innerchr1:120917235..120922062hg19UCSC Ensembl
Outerchr1:120916468..120922460hg19UCSC Ensembl
Innerchr1:120718758..120723585hg18UCSC Ensembl
Outerchr1:120717991..120723983hg18UCSC Ensembl
Innerchr1:120629277..120634104hg17UCSC Ensembl
Outerchr1:120628510..120634502hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg385912
hg195993
hg185993
hg175993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10772
Supporting Variants
SamplesNA18552
Known Genes
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)nssv17746
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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