A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466677



Internal ID15180056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136605258..136676165hg38UCSC Ensembl
Innerchr9:139499710..139570617hg19UCSC Ensembl
Innerchr9:138619531..138690438hg18UCSC Ensembl
Innerchr9:136775547..136846454hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3870908
hg1970908
hg1870908
hg1770908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv955n27
Supporting Variantsnssv542159
SamplesNINDS_168
Known GenesAGPAT2, EGFL7, MIR126
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)nsv466677
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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