A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11770



Internal ID15485251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13410270..13411481hg38UCSC Ensembl
Outerchr1:13409697..13411972hg38UCSC Ensembl
Innerchr1:13515886..13517097hg19UCSC Ensembl
Outerchr1:13515314..13517588hg19UCSC Ensembl
Innerchr1:13388473..13389684hg18UCSC Ensembl
Outerchr1:13387901..13390175hg18UCSC Ensembl
Innerchr1:13261192..13262403hg17UCSC Ensembl
Outerchr1:13260620..13262894hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382276
hg192275
hg182275
hg172275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA12802
Known GenesPRAMEF20
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)nssv11770
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