A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467708



Internal ID15181087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:12206134..12212181hg38UCSC Ensembl
Innerchr11:12227681..12233728hg19UCSC Ensembl
Innerchr11:12184257..12190304hg18UCSC Ensembl
Innerchr11:12184257..12190304hg17UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg386048
hg196048
hg186048
hg176048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542915
SamplesHGDP00550
Known GenesMICAL2
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)nsv467708
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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