A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467702



Internal ID15527767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:7322531..7348644hg38UCSC Ensembl
Innerchr11:7343762..7369875hg19UCSC Ensembl
Innerchr11:7300338..7326451hg18UCSC Ensembl
Innerchr11:7300338..7326451hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3826114
hg1926114
hg1826114
hg1726114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542911
SamplesHGDP00039
Known GenesSYT9
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)nsv467702
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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