A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455838



Internal ID6047489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23528685..23864657hg19UCSC Ensembl
Innerchr13:22426685..22762657hg18UCSC Ensembl
Innerchr13:22426685..22762657hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv533308
SamplesNINDS_163
Known GenesSGCG
MethodSNP_genotyping_analysis
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv455838
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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