A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459881



Internal ID8486928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36862461..36875760hg38UCSC Ensembl
Innerchr22:37258503..37271802hg19UCSC Ensembl
Innerchr22:35588449..35601748hg18UCSC Ensembl
Innerchr22:35583003..35596302hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3813300
hg1913300
hg1813300
hg1713300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536542
SamplesNINDS_51
Known GenesNCF4
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)nsv459881
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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