A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468988



Internal ID6045003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5522556..6250687hg19UCSC Ensembl
Innerchr12:5392817..6120948hg18UCSC Ensembl
Innerchr12:5392817..6120948hg17UCSC Ensembl
Cytoband12p13.31
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 Variantsnssv544010
SamplesHGDP01276
Known GenesANO2, NTF3, VWF
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)nsv468988
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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