A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459871



Internal ID15173250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31155174..31284638hg38UCSC Ensembl
Innerchr22:31551160..31680624hg19UCSC Ensembl
Innerchr22:29881160..30010624hg18UCSC Ensembl
Innerchr22:29875714..30005178hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38129465
hg19129465
hg18129465
hg17129465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536536
Samples1780862226_A
Known GenesLIMK2, MIR3928, PIK3IP1, RNF185
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)nsv459871
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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