A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543086



Internal ID15511197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199502488..199614909hg38UCSC Ensembl
Innerchr1:199471616..199584037hg19UCSC Ensembl
Innerchr1:197738239..197850660hg18UCSC Ensembl
Innerchr1:196203273..196315694hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38112422
hg19112422
hg18112422
hg17112422
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467950
Supporting Variants
SamplesHGDP01368
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)nssv543086
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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