A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468550



Internal ID15528615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238489668..238610506hg38UCSC Ensembl
Innerchr1:238652968..238773806hg19UCSC Ensembl
Innerchr1:236719591..236840429hg18UCSC Ensembl
Innerchr1:234979009..235099847hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38120839
hg19120839
hg18120839
hg17120839
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543668
SamplesNINDS_212
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)nsv468550
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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