A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541858



Internal ID15502085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:16484733..16516943hg38UCSC Ensembl
Innerchr9:16484731..16516941hg19UCSC Ensembl
Innerchr9:16474731..16506941hg18UCSC Ensembl
Innerchr9:16474731..16506941hg17UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg3832211
hg1932211
hg1832211
hg1732211
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466265
Supporting Variants
Samples1780854128_A
Known GenesBNC2
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)nssv541858
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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