A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467847



Internal ID15527912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:38243164..38363288hg38UCSC Ensembl
Innerchr11:38264714..38384838hg19UCSC Ensembl
Innerchr11:38221290..38341414hg18UCSC Ensembl
Innerchr11:38221290..38341414hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38120125
hg19120125
hg18120125
hg17120125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542995
SamplesNINDS_183
Known Genes
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)nsv467847
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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