A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543966



Internal ID15504800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134479860..134849175hg38UCSC Ensembl
Innerchr11:134349754..134719069hg19UCSC Ensembl
Innerchr11:133854964..134224279hg18UCSC Ensembl
Innerchr11:133854964..134224279hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38369316
hg19369316
hg18369316
hg17369316
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468922
Supporting Variants
Samples1798860280_A
Known GenesLOC283177
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)nssv543966
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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