A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468790



Internal ID15528855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:91222804..91265428hg38UCSC Ensembl
Innerchr11:90955972..90998596hg19UCSC Ensembl
Innerchr11:90595620..90638244hg18UCSC Ensembl
Innerchr11:90595620..90638244hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38n/a
hg1942625
hg18n/a
hg17n/a
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv166n27
Supporting Variantsnssv543873
Samples1780854459_A
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)nsv468790
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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