A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543921



Internal ID15160155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:102465886..102543212hg38UCSC Ensembl
Innerchr11:102336617..102413943hg19UCSC Ensembl
Innerchr11:101841827..101919153hg18UCSC Ensembl
Innerchr11:101841827..101919153hg17UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg3877327
hg1977327
hg1877327
hg1777327
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468854
Supporting Variants
SamplesHGDP00563
Known GenesMMP7
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)nssv543921
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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