A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542126



Internal ID15508983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133897678..133922850hg38UCSC Ensembl
Innerchr9:136762800..136787972hg19UCSC Ensembl
Innerchr9:135752621..135777793hg18UCSC Ensembl
Innerchr9:133792354..133817526hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3825173
hg1925173
hg1825173
hg1725173
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466625
Supporting Variants
SamplesHGDP00927
Known GenesVAV2
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)nssv542126
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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