A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543014



Internal ID15156047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:49824008..50098683hg38UCSC Ensembl
Innerchr11:49845560..50057854hg19UCSC Ensembl
Innerchr11:49802136..50014430hg18UCSC Ensembl
Innerchr11:49802136..50014430hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38274676
hg19212295
hg18212295
hg17212295
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467876
Supporting Variants
Samples1780854511_A
Known GenesOR4C12, OR4C13
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)nssv543014
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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