A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13767



Internal ID15495462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103603084..103613653hg38UCSC Ensembl
Outerchr1:103603023..103614123hg38UCSC Ensembl
Innerchr1:104145706..104156275hg19UCSC Ensembl
Outerchr1:104145645..104156745hg19UCSC Ensembl
Innerchr1:103947229..103957798hg18UCSC Ensembl
Outerchr1:103947168..103958268hg18UCSC Ensembl
Innerchr1:103857727..103868296hg17UCSC Ensembl
Outerchr1:103857666..103868766hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3811101
hg1911101
hg1811101
hg1711101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA19132
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)nssv13767
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