A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541716



Internal ID15504577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:2318486..2432800hg38UCSC Ensembl
Innerchr9:2318486..2432800hg19UCSC Ensembl
Innerchr9:2308486..2422800hg18UCSC Ensembl
Innerchr9:2308486..2422800hg17UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38114315
hg19114315
hg18114315
hg17114315
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466080
Supporting Variants
Samples1782681317_A
Known Genes
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)nssv541716
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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