A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468553



Internal ID15181932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55603545..55698436hg38UCSC Ensembl
Innerchr11:55371021..55465912hg19UCSC Ensembl
Innerchr11:55127597..55222488hg18UCSC Ensembl
Innerchr11:55127597..55222488hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3894892
hg1994892
hg1894892
hg1794892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv145n27
Supporting Variantsnssv543671
Samples1780854537_A
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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)nsv468553
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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