A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455828



Internal ID6047366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20596565..20664036hg19UCSC Ensembl
Innerchr13:19494565..19562036hg18UCSC Ensembl
Innerchr13:19494565..19562036hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv533301
SamplesNINDS_152
Known GenesZMYM2
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)nsv455828
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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