A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468495



Internal ID15181874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55603545..55679951hg38UCSC Ensembl
Innerchr11:55371021..55447427hg19UCSC Ensembl
Innerchr11:55127597..55204003hg18UCSC Ensembl
Innerchr11:55127597..55204003hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3876407
hg1976407
hg1876407
hg1776407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv145n27
Supporting Variantsnssv543614
Samples1798860251_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)nsv468495
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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