A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468878



Internal ID15182257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118076983..118161527hg38UCSC Ensembl
Innerchr11:117947698..118032242hg19UCSC Ensembl
Innerchr11:117452908..117537452hg18UCSC Ensembl
Innerchr11:117452908..117537452hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3884545
hg1984545
hg1884545
hg1784545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543932
SamplesHGDP00244
Known GenesSCN4B, TMPRSS4, TMPRSS4-AS1
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)nsv468878
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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