A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468582



Internal ID15181961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61492279..61603811hg38UCSC Ensembl
Innerchr11:61259751..61371283hg19UCSC Ensembl
Innerchr11:61016327..61127859hg18UCSC Ensembl
Innerchr11:61016327..61127859hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38111533
hg19111533
hg18111533
hg17111533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543695
SamplesNINDS_61
Known GenesLRRC10B, MIR4488, SYT7
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)nsv468582
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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