A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466606



Internal ID15526671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133030314..133080285hg38UCSC Ensembl
Innerchr9:135905701..135955672hg19UCSC Ensembl
Innerchr9:134895522..134945493hg18UCSC Ensembl
Innerchr9:132935255..132985226hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3849972
hg1949972
hg1849972
hg1749972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542113
SamplesNINDS_197
Known GenesCEL, GTF3C5, MIR6877
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)nsv466606
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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