A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468606



Internal ID15181985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67585218..68049469hg38UCSC Ensembl
Innerchr11:67352689..67816936hg19UCSC Ensembl
Innerchr11:67109265..67573512hg18UCSC Ensembl
Innerchr11:67109265..67573512hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38464252
hg19464248
hg18464248
hg17464248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543709
SamplesNINDS_4
Known GenesACY3, ALDH3B1, ALDH3B2, DOC2GP, FAM86C2P, GSTP1, MIR4691, MIR6753, MIR7113, NDUFS8, NDUFV1, NUDT8, TBX10, TCIRG1, UNC93B1
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)nsv468606
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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