A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468988



Internal ID8496035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5413390..6141521hg38UCSC Ensembl
Innerchr12:5522556..6250687hg19UCSC Ensembl
Innerchr12:5392817..6120948hg18UCSC Ensembl
Innerchr12:5392817..6120948hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38728132
hg19728132
hg18728132
hg17728132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544010
SamplesHGDP01276
Known GenesANO2, NTF3, VWF
MethodSNP array
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 reported
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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