A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543903



Internal ID15508193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:99617880..99631347hg38UCSC Ensembl
Innerchr11:99488611..99502078hg19UCSC Ensembl
Innerchr11:98993821..99007288hg18UCSC Ensembl
Innerchr11:98993821..99007288hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3813468
hg1913468
hg1813468
hg1713468
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468832
Supporting Variants
SamplesHGDP00781
Known GenesCNTN5
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)nssv543903
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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