A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12769



Internal ID15490626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13307973..13307988hg38UCSC Ensembl
Outerchr1:13307465..13308546hg38UCSC Ensembl
Innerchr1:13413568..13413583hg19UCSC Ensembl
Outerchr1:13413061..13414141hg19UCSC Ensembl
Innerchr1:13286155..13286170hg18UCSC Ensembl
Outerchr1:13285648..13286728hg18UCSC Ensembl
Innerchr1:13158874..13158889hg17UCSC Ensembl
Outerchr1:13158367..13159447hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381082
hg191081
hg181081
hg171081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18572
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)nssv12769
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