A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466558



Internal ID15179937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:124464413..124557925hg38UCSC Ensembl
Innerchr9:127226692..127320204hg19UCSC Ensembl
Innerchr9:126266513..126360025hg18UCSC Ensembl
Innerchr9:124306246..124399758hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3893513
hg1993513
hg1893513
hg1793513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542077
SamplesHGDP00774
Known GenesNR5A1, NR6A1
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)nsv466558
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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